Athena Diagnostics Inc
General information
Athena Diagnostics Inc
200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012
200 Forest Street
2nd Floor
Marlborough
Massachusetts
United States - 01752
http://www.athenadiagnostics.com/
Organization ID: 1012
Personnel
- Izabela Karbassi, Contact
Phone: 774-843-3231
Email: Izabela.X.Karbassi@QuestDiagnostics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15644
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABAT | 14 | Dec 30, 2020 |
ABCC8 | 84 | Dec 30, 2020 |
ABCD1 | 26 | Dec 30, 2020 |
ABHD12 | 4 | Sep 25, 2019 |
ACTA1 | 1 | Sep 25, 2019 |
ACTB | 3 | Sep 25, 2019 |
ACTG1 | 12 | Dec 30, 2020 |
ACTN4 | 22 | Dec 30, 2020 |
ADCY1 | 6 | Sep 25, 2019 |
ADGRG1 | 21 | Dec 30, 2020 |
ADGRV1 | 115 | Dec 30, 2020 |
ADSL | 10 | Sep 25, 2019 |
AFG3L2 | 43 | Dec 30, 2020 |
AGRN | 22 | Dec 30, 2020 |
AHI1 | 1 | Sep 25, 2019 |
AIFM1 | 2 | Sep 25, 2019 |
AIRE | 20 | Sep 25, 2019 |
ALDH7A1 | 6 | Dec 30, 2020 |
ALG13 | 16 | Dec 30, 2020 |
ALG9 | 3 | Sep 25, 2019 |
ALMS1 | 25 | Dec 30, 2020 |
ALPL | 14 | Dec 30, 2020 |
ALS2 | 35 | Dec 30, 2020 |
AMT | 6 | Dec 30, 2020 |
ANAPC15 | 2 | Sep 25, 2019 |
ANG | 4 | Sep 25, 2019 |
ANGPT2 | 1 | Aug 31, 2018 |
ANKH | 3 | Dec 30, 2020 |
ANKRD11 | 53 | Dec 30, 2020 |
ANO10 | 47 | Dec 30, 2020 |
ANO5 | 36 | Dec 30, 2020 |
ANOS1 | 6 | Dec 30, 2020 |
AP5Z1 | 54 | Dec 30, 2020 |
APOB | 1 | Aug 17, 2017 |
APP | 23 | Dec 30, 2020 |
APTX | 21 | Dec 30, 2020 |
AQP2 | 4 | Aug 31, 2018 |
ARFGEF1-DT | 4 | Dec 30, 2020 |
ARFGEF2 | 15 | Dec 30, 2020 |
ARHGEF9 | 3 | Sep 25, 2019 |
ARMS2 | 5 | Aug 31, 2018 |
ARSA | 6 | Dec 30, 2020 |
ARX | 3 | Aug 17, 2017 |
ASAH1 | 13 | Dec 30, 2020 |
ASPM | 82 | Dec 30, 2020 |
ASTN2 | 8 | Dec 30, 2020 |
ATL1 | 18 | Dec 30, 2020 |
ATM | 127 | Dec 30, 2020 |
ATP13A2 | 31 | Dec 30, 2020 |
ATP1A2 | 37 | Dec 30, 2020 |
ATP1A3 | 15 | Dec 30, 2020 |
ATP2A1 | 25 | Dec 30, 2020 |
ATP2A1-AS1 | 1 | Aug 31, 2018 |
ATP2A2 | 8 | Sep 25, 2019 |
ATP2B2 | 7 | Dec 30, 2020 |
ATP6AP2 | 4 | Sep 25, 2019 |
ATP6V0A2 | 11 | Dec 30, 2020 |
ATP6V1B1 | 5 | Dec 30, 2020 |
ATP6V1B1-AS1 | 1 | Aug 31, 2018 |
ATP6V1B2 | 1 | Sep 25, 2019 |
ATRIP | 10 | Sep 25, 2019 |
ATRIP-TREX1 | 10 | Sep 25, 2019 |
ATRX | 15 | Dec 30, 2020 |
AVPR2 | 12 | Dec 30, 2020 |
AXDND1 | 8 | Sep 25, 2019 |
B3GNT4 | 1 | Dec 30, 2020 |
B4GAT1 | 1 | Aug 31, 2018 |
BAG3 | 7 | Aug 31, 2018 |
BBS1 | 7 | Sep 25, 2019 |
BBS10 | 3 | Aug 17, 2017 |
BBS2 | 2 | Aug 31, 2018 |
BCKDK | 6 | Dec 30, 2020 |
BCS1L | 2 | Sep 25, 2019 |
BDP1 | 12 | Dec 30, 2020 |
BICD2 | 4 | Aug 31, 2018 |
BIN1 | 3 | Dec 30, 2020 |
BRAT1 | 39 | Dec 30, 2020 |
BSCL2 | 18 | Dec 30, 2020 |
BSND | 3 | Aug 31, 2018 |
C10orf105 | 4 | Dec 30, 2020 |
C11orf65 | 48 | Dec 30, 2020 |
C12orf43 | 3 | Dec 30, 2020 |
C17orf107 | 8 | Sep 25, 2019 |
CABP2 | 1 | Sep 25, 2019 |
CACNA1A | 233 | Dec 30, 2020 |
CACNA1D | 10 | Dec 30, 2020 |
CACNA1H | 137 | Dec 30, 2020 |
CACNA1S | 63 | Dec 30, 2020 |
CACNA2D1 | 12 | Sep 25, 2019 |
CACNA2D1-AS1 | 2 | Aug 17, 2017 |
CACNA2D2 | 13 | Dec 30, 2020 |
CACNB4 | 33 | Dec 30, 2020 |
CAPN3 | 75 | Dec 30, 2020 |
CASD1 | 25 | Dec 30, 2020 |
CASK | 3 | Dec 30, 2020 |
CASR | 77 | Dec 30, 2020 |
CATIP-AS2 | 5 | Aug 31, 2018 |
CAV3 | 18 | Dec 30, 2020 |
CAVIN1 | 3 | Dec 30, 2020 |
CC2D2A | 2 | Aug 17, 2017 |
CCDC50 | 4 | Sep 25, 2019 |
CCDC78 | 11 | Dec 30, 2020 |
CCDC88C | 18 | Aug 31, 2018 |
CCM2 | 12 | Dec 30, 2020 |
CCNF | 1 | Sep 25, 2019 |
CDC14A | 2 | Sep 25, 2019 |
CDH23 | 36 | Dec 30, 2020 |
CDH23-AS1 | 1 | Sep 25, 2019 |
CDKL5 | 8 | Dec 30, 2020 |
CEACAM16 | 4 | Dec 30, 2020 |
CEMIP | 15 | Dec 30, 2020 |
CENPJ | 14 | Dec 30, 2020 |
CEP290 | 3 | Dec 30, 2020 |
CHAT | 8 | Dec 30, 2020 |
CHD2 | 21 | Dec 30, 2020 |
CHD7 | 19 | Dec 30, 2020 |
CHKB | 4 | Aug 31, 2018 |
CHKB-CPT1B | 4 | Aug 31, 2018 |
CHMP2B | 10 | Dec 30, 2020 |
CHRNA1 | 5 | Sep 25, 2019 |
CHRNA2 | 8 | Dec 30, 2020 |
CHRNA4 | 24 | Dec 30, 2020 |
CHRNB1 | 1 | Aug 17, 2017 |
CHRNB2 | 14 | Dec 30, 2020 |
CHRND | 4 | Sep 25, 2019 |
CHRNE | 13 | Sep 25, 2019 |
CHSY1 | 13 | Dec 30, 2020 |
CIB2 | 2 | Sep 25, 2019 |
CISD2 | 1 | Sep 25, 2019 |
CIZ1 | 1 | Aug 31, 2018 |
CLCC1 | 1 | Sep 25, 2019 |
CLCN1 | 122 | Dec 30, 2020 |
CLCNKA | 13 | Aug 31, 2018 |
CLCNKB | 37 | Dec 30, 2020 |
CLDN14 | 5 | Sep 25, 2019 |
CLIC5 | 3 | Sep 25, 2019 |
CLN3 | 7 | Dec 30, 2020 |
CLN5 | 10 | Sep 25, 2019 |
CLN6 | 9 | Dec 30, 2020 |
CLN8 | 9 | Dec 30, 2020 |
CLPP | 4 | Sep 25, 2019 |
CLRN1 | 2 | Dec 30, 2020 |
CNTN1 | 6 | Dec 30, 2020 |
CNTNAP2 | 30 | Dec 30, 2020 |
COCH | 1 | Dec 30, 2020 |
COL11A1 | 9 | Dec 30, 2020 |
COL11A2 | 9 | Dec 30, 2020 |
COL18A1 | 32 | Aug 31, 2018 |
COL1A1 | 72 | Dec 30, 2020 |
COL1A2 | 40 | Dec 30, 2020 |
COL2A1 | 15 | Dec 30, 2020 |
COL4A1 | 52 | Dec 30, 2020 |
COL4A2 | 1 | Jul 17, 2017 |
COL4A3 | 60 | Dec 30, 2020 |
COL4A4 | 83 | Dec 30, 2020 |
COL4A5 | 76 | Dec 30, 2020 |
COL4A6 | 7 | Dec 30, 2020 |
COL6A1 | 20 | Dec 30, 2020 |
COL6A2 | 23 | Dec 30, 2020 |
COL6A3 | 49 | Dec 30, 2020 |
COL9A1 | 10 | Dec 30, 2020 |
COL9A2 | 15 | Dec 30, 2020 |
COL9A3 | 15 | Dec 30, 2020 |
COLQ | 4 | Sep 25, 2019 |
COQ8A | 73 | Dec 30, 2020 |
CPA6 | 8 | Dec 30, 2020 |
CPLANE1 | 1 | Aug 31, 2018 |
CPT2 | 13 | Dec 30, 2020 |
CRH | 3 | Aug 31, 2018 |
CRPPA | 11 | Dec 30, 2020 |
CRPPA-AS1 | 4 | Dec 30, 2020 |
CRYAB | 3 | Dec 30, 2020 |
CRYM | 1 | Sep 25, 2019 |
CSTB | 6 | Dec 30, 2020 |
CTSD | 9 | Sep 25, 2019 |
CTSF | 15 | Dec 30, 2020 |
CUL4B | 7 | Sep 25, 2019 |
CYB561D2 | 7 | Dec 30, 2020 |
CYP11B1 | 43 | Dec 30, 2020 |
CYP17A1 | 3 | Aug 31, 2018 |
CYP21A2 | 38 | Dec 30, 2020 |
CYP27A1 | 16 | Dec 30, 2020 |
CYP7B1 | 13 | Dec 30, 2020 |
DAG1 | 21 | Dec 30, 2020 |
DCDC2 | 5 | Dec 30, 2020 |
DCTN1 | 27 | Dec 30, 2020 |
DCX | 2 | Sep 25, 2019 |
DEAF1 | 12 | Sep 25, 2019 |
DEPDC5 | 27 | Dec 30, 2020 |
DES | 28 | Dec 30, 2020 |
DGUOK | 1 | Aug 17, 2017 |
DGUOK-AS1 | 1 | Aug 17, 2017 |
DHCR7 | 8 | Sep 25, 2019 |
DIABLO | 1 | Dec 30, 2020 |
DIAPH1 | 5 | Dec 30, 2020 |
DIAPH3 | 7 | Dec 30, 2020 |
DLX5 | 1 | Dec 30, 2020 |
DM1-AS | 1 | Sep 25, 2019 |
DMAC2L | 2 | Aug 31, 2018 |
DMD | 182 | Dec 30, 2020 |
DNAJB6 | 8 | Dec 30, 2020 |
DNAJC5 | 3 | Sep 25, 2019 |
DNM1 | 7 | Sep 25, 2019 |
DNM2 | 43 | Dec 30, 2020 |
DNMT1 | 3 | Dec 30, 2020 |
DOCK7 | 18 | Dec 30, 2020 |
DOK7 | 12 | Dec 30, 2020 |
DPAGT1 | 3 | Dec 30, 2020 |
DPM2 | 1 | Dec 30, 2020 |
DPYD | 21 | Dec 30, 2020 |
DPYD-AS1 | 5 | Dec 30, 2020 |
DSPP | 11 | Dec 30, 2020 |
DYNC1H1 | 52 | Dec 30, 2020 |
DYRK1A | 6 | Sep 25, 2019 |
DYSF | 118 | Dec 30, 2020 |
EDN3 | 1 | Sep 25, 2019 |
EDNRB | 4 | Sep 25, 2019 |
EDNRB-AS1 | 3 | Sep 25, 2019 |
EEF1A2 | 9 | Dec 30, 2020 |
EEF2 | 85 | Dec 30, 2020 |
EFHC1 | 22 | Sep 25, 2019 |
EGR2 | 7 | Dec 30, 2020 |
EIF2B3 | 3 | Dec 30, 2020 |
EIF2B4 | 5 | Aug 31, 2018 |
EIF2B5 | 3 | Aug 31, 2018 |
ELMOD3 | 5 | Dec 30, 2020 |
EMD | 5 | Sep 25, 2019 |
EMX2 | 4 | Sep 25, 2019 |
EMX2OS | 1 | Aug 17, 2017 |
EPM2A | 14 | Sep 25, 2019 |
EPS8 | 6 | Sep 25, 2019 |
EPS8L2 | 5 | Dec 30, 2020 |
ERCC2 | 6 | Sep 25, 2019 |
ERCC3 | 3 | Sep 25, 2019 |
ESPN | 3 | Dec 30, 2020 |
ESR1 | 4 | Dec 30, 2020 |
ESR2 | 6 | Dec 30, 2020 |
ESRRB | 5 | Dec 30, 2020 |
EYA1 | 3 | Sep 25, 2019 |
EYA4 | 1 | Sep 25, 2019 |
FA2H | 13 | Dec 30, 2020 |
FANCI | 8 | Dec 30, 2020 |
FBXL3 | 5 | Sep 25, 2019 |
FBXO30-DT | 4 | Sep 25, 2019 |
FGD1 | 7 | Sep 25, 2019 |
FGD4 | 24 | Dec 30, 2020 |
FGF14 | 19 | Dec 30, 2020 |
FGF23 | 3 | Sep 25, 2019 |
FGF3 | 2 | Sep 25, 2019 |
FGF8 | 1 | Aug 31, 2018 |
FGFR1 | 9 | Dec 30, 2020 |
FGFR2 | 6 | Dec 30, 2020 |
FGFR3 | 20 | Dec 30, 2020 |
FHL1 | 7 | Dec 30, 2020 |
FIG4 | 36 | Dec 30, 2020 |
FKRP | 28 | Dec 30, 2020 |
FKTN | 16 | Dec 30, 2020 |
FLNA | 29 | Dec 30, 2020 |
FLNC | 39 | Dec 30, 2020 |
FLNC-AS1 | 16 | Dec 30, 2020 |
FLVCR1 | 36 | Dec 30, 2020 |
FOLR1 | 2 | Sep 25, 2019 |
FOXG1 | 9 | Dec 30, 2020 |
FOXI1 | 4 | Sep 25, 2019 |
FTCD | 4 | Aug 31, 2018 |
FUS | 18 | Dec 30, 2020 |
FXN | 26 | Dec 30, 2020 |
GABRA1 | 5 | Dec 30, 2020 |
GABRB2 | 6 | Sep 25, 2019 |
GABRB3 | 8 | Sep 25, 2019 |
GABRD | 13 | Sep 25, 2019 |
GABRG2 | 13 | Sep 25, 2019 |
GAMT | 6 | Sep 25, 2019 |
GARS1 | 33 | Dec 30, 2020 |
GATA3 | 2 | Dec 30, 2020 |
GATAD1 | 2 | Sep 25, 2019 |
GATM | 4 | Dec 30, 2020 |
GCH1 | 17 | Dec 30, 2020 |
GCK | 194 | Dec 30, 2020 |
GDAP1 | 11 | Dec 30, 2020 |
GFAP | 26 | Dec 30, 2020 |
GFPT1 | 4 | Dec 30, 2020 |
GH-LCR | 119 | Dec 30, 2020 |
GH1 | 5 | Sep 25, 2019 |
GHR | 5 | Dec 30, 2020 |
GIPC3 | 2 | Sep 25, 2019 |
GJB1 | 64 | Dec 30, 2020 |
GJB2 | 71 | Dec 30, 2020 |
GJB3 | 8 | Sep 25, 2019 |
GJC2 | 1 | Dec 30, 2020 |
GLDC | 34 | Dec 30, 2020 |
GLUD1 | 10 | Sep 25, 2019 |
GML | 10 | Dec 30, 2020 |
GNAO1 | 8 | Aug 31, 2018 |
GNAO1-AS1 | 1 | Aug 31, 2018 |
GNE | 6 | Dec 30, 2020 |
GNRH1 | 1 | Aug 31, 2018 |
GNRHR | 1 | Aug 17, 2017 |
GOSR2 | 6 | Dec 30, 2020 |
GPC3 | 5 | Dec 30, 2020 |
GPSM2 | 9 | Dec 30, 2020 |
GRHL2 | 4 | Sep 25, 2019 |
GRIA3 | 6 | Dec 30, 2020 |
GRIN1 | 10 | Sep 25, 2019 |
GRIN2A | 15 | Dec 30, 2020 |
GRIN2B | 18 | Sep 25, 2019 |
GRM1 | 73 | Dec 30, 2020 |
GRN | 49 | Dec 30, 2020 |
GRXCR1 | 2 | Sep 25, 2019 |
GRXCR2 | 3 | Sep 25, 2019 |
GSDME | 2 | Sep 25, 2019 |
HCN1 | 8 | Sep 25, 2019 |
HCN4 | 29 | Dec 30, 2020 |
HGF | 2 | Dec 30, 2020 |
HNF1A | 102 | Dec 30, 2020 |
HNF1B | 33 | Dec 30, 2020 |
HNF4A | 66 | Dec 30, 2020 |
HNRNPU | 7 | Sep 25, 2019 |
HNRNPUL2-BSCL2 | 18 | Dec 30, 2020 |
HOMER2 | 7 | Dec 30, 2020 |
HOXB1 | 3 | Sep 25, 2019 |
HSD11B2 | 8 | Sep 25, 2019 |
HSD17B4 | 8 | Sep 25, 2019 |
HSD3B2 | 3 | Sep 25, 2019 |
HSPB1 | 22 | Dec 30, 2020 |
HSPB3 | 4 | Aug 31, 2018 |
HSPB8 | 9 | Dec 30, 2020 |
HSPD1 | 9 | Dec 30, 2020 |
HSPG2 | 238 | Dec 30, 2020 |
HTRA1 | 17 | Dec 30, 2020 |
IGHMBP2 | 22 | Dec 30, 2020 |
ILDR1 | 5 | Sep 25, 2019 |
INF2 | 28 | Dec 30, 2020 |
INS | 8 | Dec 30, 2020 |
INS-IGF2 | 5 | Aug 31, 2018 |
IQSEC2 | 7 | Dec 30, 2020 |
ITGA7 | 7 | Dec 30, 2020 |
ITPR1 | 145 | Dec 30, 2020 |
KAAG1 | 1 | Dec 30, 2020 |
KANSL1 | 26 | Dec 30, 2020 |
KARS1 | 4 | Sep 25, 2019 |
KBTBD13 | 6 | Dec 30, 2020 |
KCNA1 | 27 | Dec 30, 2020 |
KCNA2 | 5 | Sep 25, 2019 |
KCNB1 | 5 | Aug 31, 2018 |
KCNC1 | 6 | Dec 30, 2020 |
KCNC3 | 32 | Dec 30, 2020 |
KCND3 | 44 | Dec 30, 2020 |
KCNE1 | 1 | Sep 25, 2019 |
KCNH2 | 26 | Dec 30, 2020 |
KCNJ1 | 7 | Dec 30, 2020 |
KCNJ10 | 8 | Dec 30, 2020 |
KCNJ11 | 26 | Dec 30, 2020 |
KCNJ2 | 4 | Sep 25, 2019 |
KCNMA1 | 20 | Dec 30, 2020 |
KCNMA1-AS1 | 5 | Sep 25, 2019 |
KCNQ1 | 5 | Sep 25, 2019 |
KCNQ1-AS1 | 1 | Sep 25, 2019 |
KCNQ2 | 19 | Dec 30, 2020 |
KCNQ3 | 12 | Dec 30, 2020 |
KCNQ4 | 5 | Sep 25, 2019 |
KCNT1 | 40 | Dec 30, 2020 |
KCTD7 | 7 | Dec 30, 2020 |
KDM5C | 3 | Dec 30, 2020 |
KIF1A | 52 | Dec 30, 2020 |
KIF5A | 21 | Dec 30, 2020 |
KIFBP | 10 | Dec 30, 2020 |
KIRREL2 | 1 | Aug 17, 2017 |
KISS1R | 4 | Dec 30, 2020 |
KLHL40 | 10 | Dec 30, 2020 |
KMT2D | 53 | Dec 30, 2020 |
KRIT1 | 9 | Dec 30, 2020 |
L1CAM | 12 | Dec 30, 2020 |
L2HGDH | 13 | Dec 30, 2020 |
LAMA2 | 83 | Dec 30, 2020 |
LAMB2 | 16 | Dec 30, 2020 |
LARGE1 | 16 | Dec 30, 2020 |
LARS2 | 9 | Dec 30, 2020 |
LARS2-AS1 | 4 | Dec 30, 2020 |
LBR | 14 | Dec 30, 2020 |
LDB3 | 13 | Dec 30, 2020 |
LDLR | 12 | Aug 31, 2018 |
LDLRAD2 | 15 | Dec 30, 2020 |
LEPR | 12 | Dec 30, 2020 |
LGI1 | 4 | Dec 30, 2020 |
LHCGR | 8 | Sep 25, 2019 |
LIAS | 5 | Sep 25, 2019 |
LITAF | 5 | Sep 25, 2019 |
LMNA | 41 | Dec 30, 2020 |
LMNB2 | 11 | Dec 30, 2020 |
LOC100130587 | 2 | Aug 17, 2017 |
LOC100506071 | 1 | Dec 30, 2020 |
LOC101927055 | 14 | Dec 30, 2020 |
LOC101927870 | 7 | Sep 25, 2019 |
LOC101928008 | 17 | Dec 30, 2020 |
LOC102724058 | 37 | Dec 30, 2020 |
LOC105371049 | 44 | Dec 30, 2020 |
LOC105371566 | 10 | Dec 30, 2020 |
LOC106501712 | 13 | Aug 31, 2018 |
LOC106501713 | 33 | Dec 30, 2020 |
LOC106780800 | 36 | Dec 30, 2020 |
LOC106799833 | 34 | Dec 30, 2020 |
LOC107075317 | 1 | Sep 25, 2019 |
LOC107303340 | 2 | Dec 30, 2020 |
LOC107652445 | 11 | Dec 30, 2020 |
LOC107982234 | 2 | Jul 17, 2017 |
LOC108903148 | 3 | Aug 31, 2018 |
LOC110121269 | 5 | Sep 25, 2019 |
LOC110121486 | 4 | Dec 30, 2020 |
LOC110673972 | 2 | Aug 17, 2017 |
LOC112533671 | 2 | Aug 31, 2018 |
LOXHD1 | 23 | Dec 30, 2020 |
LRP5 | 8 | Dec 30, 2020 |
LRRC37A2 | 6 | Dec 30, 2020 |
LRRK2 | 21 | Dec 30, 2020 |
LRTOMT | 4 | Sep 25, 2019 |
MAF | 5 | Aug 31, 2018 |
MAGI2 | 17 | Dec 30, 2020 |
MAGI2-AS3 | 2 | Sep 25, 2019 |
MANBA | 4 | Dec 30, 2020 |
MAPT | 23 | Dec 30, 2020 |
MARVELD2 | 4 | Dec 30, 2020 |
MATR3 | 2 | Aug 17, 2017 |
MBD5 | 14 | Dec 30, 2020 |
MC4R | 12 | Dec 30, 2020 |
MCM2 | 7 | Dec 30, 2020 |
MCOLN1 | 2 | Dec 30, 2020 |
MCPH1 | 24 | Dec 30, 2020 |
MCPH1-AS1 | 7 | Dec 30, 2020 |
ME2 | 3 | Aug 17, 2017 |
MECP2 | 20 | Dec 30, 2020 |
MEGF10 | 9 | Dec 30, 2020 |
MEN1 | 11 | Dec 30, 2020 |
MESD | 1 | Sep 25, 2019 |
MET | 6 | Sep 25, 2019 |
MFF-DT | 59 | Dec 30, 2020 |
MFN2 | 55 | Dec 30, 2020 |
MFSD8 | 3 | Sep 25, 2019 |
MHRT | 5 | Aug 31, 2018 |
MIF4GD-DT | 2 | Aug 31, 2018 |
MIR3936HG | 2 | Dec 30, 2020 |
MIR6084 | 2 | Aug 31, 2018 |
MIR6511B1 | 2 | Aug 31, 2018 |
MIR6766 | 1 | Dec 30, 2020 |
MIR96 | 2 | Sep 25, 2019 |
MITF | 6 | Dec 30, 2020 |
MPV17 | 1 | Aug 31, 2018 |
MPZ | 44 | Dec 30, 2020 |
MRE11 | 48 | Dec 30, 2020 |
MSRB3 | 1 | Dec 30, 2020 |
MT-CO1 | 26 | Dec 30, 2020 |
MT-CO2 | 11 | Dec 30, 2020 |
MT-ND1 | 17 | Dec 30, 2020 |
MT-RNR1 | 12 | Dec 30, 2020 |
MT-TI | 1 | Sep 25, 2019 |
MT-TK | 1 | Sep 25, 2019 |
MT-TQ | 2 | Dec 30, 2020 |
MT-TS1 | 1 | Sep 25, 2019 |
MT-TS2 | 2 | Dec 30, 2020 |
MTM1 | 2 | Sep 25, 2019 |
MTMR2 | 16 | Dec 30, 2020 |
MTPAP | 27 | Dec 30, 2020 |
MUSK | 8 | Dec 30, 2020 |
MYBPC3 | 9 | Dec 30, 2020 |
MYH11 | 1 | Aug 17, 2017 |
MYH14 | 23 | Dec 30, 2020 |
MYH2 | 5 | Dec 30, 2020 |
MYH7 | 19 | Dec 30, 2020 |
MYH9 | 11 | Sep 25, 2019 |
MYHAS | 5 | Dec 30, 2020 |
MYO15A | 24 | Dec 30, 2020 |
MYO3A | 10 | Dec 30, 2020 |
MYO6 | 9 | Sep 25, 2019 |
MYO7A | 27 | Dec 30, 2020 |
MYOT | 13 | Dec 30, 2020 |
NARS2 | 5 | Dec 30, 2020 |
NDE1 | 5 | Sep 25, 2019 |
NDP | 1 | Sep 25, 2019 |
NDP-AS1 | 1 | Sep 25, 2019 |
NDRG1 | 17 | Dec 30, 2020 |
NDUFA1 | 2 | Dec 30, 2020 |
NEB | 92 | Dec 30, 2020 |
NEFL | 16 | Dec 30, 2020 |
NEXMIF | 10 | Sep 25, 2019 |
NF1 | 48 | Dec 30, 2020 |
NF2 | 10 | Dec 30, 2020 |
NHLRC1 | 7 | Dec 30, 2020 |
NICN1 | 1 | Sep 25, 2019 |
NIPA1 | 7 | Dec 30, 2020 |
NIPBL | 19 | Dec 30, 2020 |
NLRP3 | 10 | Dec 30, 2020 |
NOC3L | 2 | Aug 17, 2017 |
NOTCH3 | 299 | Dec 30, 2020 |
NPHS1 | 37 | Dec 30, 2020 |
NPHS2 | 25 | Dec 30, 2020 |
NR0B1 | 8 | Dec 30, 2020 |
NR2F1 | 2 | Aug 31, 2018 |
NRXN1 | 19 | Dec 30, 2020 |
NTRK1 | 13 | Dec 30, 2020 |
OFD1 | 7 | Dec 30, 2020 |
OPA1 | 65 | Dec 30, 2020 |
OPA1-AS1 | 2 | Aug 31, 2018 |
OPHN1 | 9 | Dec 30, 2020 |
OPTN | 13 | Dec 30, 2020 |
OSBPL2 | 4 | Dec 30, 2020 |
OTOA | 3 | Dec 30, 2020 |
OTOF | 32 | Dec 30, 2020 |
OTOG | 39 | Dec 30, 2020 |
OTOGL | 11 | Dec 30, 2020 |
OTOP2 | 1 | Sep 25, 2019 |
P2RX2 | 4 | Dec 30, 2020 |
PACRG | 1 | Sep 25, 2019 |
PAFAH1B1 | 1 | Aug 31, 2018 |
PAK3 | 3 | Sep 25, 2019 |
PANK2 | 9 | Dec 30, 2020 |
PARK7 | 4 | Dec 30, 2020 |
PAX3 | 3 | Dec 30, 2020 |
PCDH15 | 23 | Dec 30, 2020 |
PCDH19 | 21 | Dec 30, 2020 |
PDCD10 | 1 | Aug 17, 2017 |
PDX1 | 25 | Dec 30, 2020 |
PDYN | 20 | Dec 30, 2020 |
PDYN-AS1 | 20 | Dec 30, 2020 |
PDZD7 | 13 | Dec 30, 2020 |
PEX1 | 8 | Dec 30, 2020 |
PEX6 | 9 | Dec 30, 2020 |
PEX7 | 4 | Sep 25, 2019 |
PFN1 | 1 | Sep 25, 2019 |
PHEX | 26 | Dec 30, 2020 |
PHEX-AS1 | 1 | Aug 31, 2018 |
PHGDH | 7 | Dec 30, 2020 |
PIGA | 3 | Sep 25, 2019 |
PIGN | 16 | Sep 25, 2019 |
PIGO | 14 | Dec 30, 2020 |
PIGV | 1 | Aug 17, 2017 |
PINK1 | 16 | Dec 30, 2020 |
PINK1-AS | 10 | Dec 30, 2020 |
PJVK | 1 | Sep 25, 2019 |
PKD1 | 423 | Dec 30, 2020 |
PKD2 | 42 | Dec 30, 2020 |
PLA2G6 | 8 | Dec 30, 2020 |
PLCB1 | 17 | Sep 25, 2019 |
PLCE1 | 23 | Dec 30, 2020 |
PLCE1-AS1 | 1 | Sep 25, 2019 |
PLD3 | 1 | Jul 17, 2017 |
PLEC | 296 | Dec 30, 2020 |
PLP1 | 5 | Dec 30, 2020 |
PLUT | 8 | Dec 30, 2020 |
PMP22 | 25 | Dec 30, 2020 |
PNKD | 5 | Aug 31, 2018 |
PNKP | 13 | Sep 25, 2019 |
PNPLA6 | 28 | Dec 30, 2020 |
PNPO | 7 | Dec 30, 2020 |
PNPT1 | 3 | Dec 30, 2020 |
POLG | 132 | Dec 30, 2020 |
POLR1C | 3 | Dec 30, 2020 |
POLR1D | 5 | Sep 25, 2019 |
POLR2F | 3 | Sep 25, 2019 |
POMGNT1 | 21 | Dec 30, 2020 |
POMGNT2 | 4 | Dec 30, 2020 |
POMT1 | 51 | Dec 30, 2020 |
POMT2 | 30 | Dec 30, 2020 |
POU1F1 | 1 | Aug 31, 2018 |
POU4F3 | 3 | Sep 25, 2019 |
PPT1 | 4 | Dec 30, 2020 |
PQBP1 | 2 | Aug 31, 2018 |
PRICKLE1 | 17 | Dec 30, 2020 |
PRICKLE2 | 16 | Dec 30, 2020 |
PRIMA1 | 5 | Sep 25, 2019 |
PRKCG | 56 | Dec 30, 2020 |
PRKN | 15 | Dec 30, 2020 |
PROK2 | 1 | Aug 17, 2017 |
PROKR2 | 5 | Dec 30, 2020 |
PROP1 | 5 | Aug 31, 2018 |
PRPS1 | 1 | Dec 30, 2020 |
PRRT2 | 12 | Dec 30, 2020 |
PRX | 49 | Dec 30, 2020 |
PSEN1 | 38 | Dec 30, 2020 |
PSEN2 | 21 | Dec 30, 2020 |
PTCHD1-AS | 6 | Sep 25, 2019 |
PTEN | 1 | Aug 31, 2018 |
PTPN11 | 4 | Dec 30, 2020 |
PTPRQ | 19 | Dec 30, 2020 |
PURA | 1 | Sep 25, 2019 |
QARS1 | 7 | Dec 30, 2020 |
RAB33A | 2 | Sep 25, 2019 |
RAB39B | 1 | Dec 30, 2020 |
RAB3GAP1 | 14 | Dec 30, 2020 |
RAB7A | 6 | Dec 30, 2020 |
RAB9B | 5 | Dec 30, 2020 |
RAI1 | 26 | Sep 25, 2019 |
RAPSN | 8 | Dec 30, 2020 |
RBFOX1 | 9 | Sep 25, 2019 |
RDX | 3 | Dec 30, 2020 |
REEP1 | 9 | Dec 30, 2020 |
RELN | 62 | Dec 30, 2020 |
RET | 20 | Dec 30, 2020 |
RIF1 | 18 | Dec 30, 2020 |
RIPOR2 | 21 | Dec 30, 2020 |
RNASE4 | 4 | Sep 25, 2019 |
RNASEH2A | 5 | Sep 25, 2019 |
RNASEH2B | 7 | Sep 25, 2019 |
RNASEH2C | 1 | Dec 30, 2020 |
RNF17 | 2 | Sep 25, 2019 |
ROGDI | 12 | Sep 25, 2019 |
ROR1 | 3 | Sep 25, 2019 |
RRM2B | 2 | Sep 25, 2019 |
RS1 | 3 | Dec 30, 2020 |
RTN2 | 19 | Dec 30, 2020 |
RXYLT1 | 4 | Dec 30, 2020 |
RXYLT1-AS1 | 1 | Aug 31, 2018 |
RYR1 | 53 | Dec 30, 2020 |
S1PR2 | 3 | Dec 30, 2020 |
SACS | 252 | Dec 30, 2020 |
SALL1 | 8 | Dec 30, 2020 |
SAMHD1 | 2 | Aug 31, 2018 |
SBF2 | 46 | Dec 30, 2020 |
SBF2-AS1 | 11 | Dec 30, 2020 |
SCARB2 | 9 | Dec 30, 2020 |
SCN1A | 82 | Dec 30, 2020 |
SCN1A-AS1 | 32 | Dec 30, 2020 |
SCN1B | 9 | Sep 25, 2019 |
SCN2A | 36 | Dec 30, 2020 |
SCN3A | 19 | Dec 30, 2020 |
SCN4A | 168 | Dec 30, 2020 |
SCN5A | 45 | Dec 30, 2020 |
SCN8A | 18 | Dec 30, 2020 |
SCN9A | 39 | Dec 30, 2020 |
SCNN1B | 22 | Dec 30, 2020 |
SCNN1G | 13 | Dec 30, 2020 |
SCO2 | 3 | Sep 25, 2019 |
SDHB | 4 | Aug 31, 2018 |
SELENON | 15 | Dec 30, 2020 |
SEMA3E | 4 | Sep 25, 2019 |
SEPTIN9 | 9 | Dec 30, 2020 |
SERPINB6 | 4 | Dec 30, 2020 |
SERPINI1 | 4 | Sep 25, 2019 |
SETBP1 | 12 | Dec 30, 2020 |
SETD2 | 18 | Dec 30, 2020 |
SETX | 195 | Dec 30, 2020 |
SGCA | 17 | Dec 30, 2020 |
SGCB | 12 | Dec 30, 2020 |
SGCD | 10 | Dec 30, 2020 |
SGCE | 27 | Dec 30, 2020 |
SGCG | 18 | Dec 30, 2020 |
SH3TC2 | 50 | Dec 30, 2020 |
SHANK2 | 1 | Aug 31, 2018 |
SHANK3 | 1 | Aug 31, 2018 |
SHH | 5 | Sep 25, 2019 |
SHLD2 | 1 | Aug 31, 2018 |
SHOX | 44 | Dec 30, 2020 |
SIGMAR1 | 4 | Dec 30, 2020 |
SIK1 | 17 | Dec 30, 2020 |
SIL1 | 39 | Dec 30, 2020 |
SIX1 | 1 | Sep 25, 2019 |
SIX3 | 8 | Sep 25, 2019 |
SIX5 | 4 | Dec 30, 2020 |
SLC12A1 | 23 | Dec 30, 2020 |
SLC12A3 | 54 | Dec 30, 2020 |
SLC13A5 | 4 | Sep 25, 2019 |
SLC17A8 | 3 | Dec 30, 2020 |
SLC19A1 | 12 | Aug 31, 2018 |
SLC19A2 | 2 | Sep 25, 2019 |
SLC19A3 | 13 | Dec 30, 2020 |
SLC1A3 | 37 | Dec 30, 2020 |
SLC22A4 | 3 | Dec 30, 2020 |
SLC25A19 | 5 | Sep 25, 2019 |
SLC25A22 | 8 | Dec 30, 2020 |
SLC25A4 | 2 | Dec 30, 2020 |
SLC26A4 | 10 | Dec 30, 2020 |
SLC26A4-AS1 | 1 | Sep 25, 2019 |
SLC26A5 | 3 | Dec 30, 2020 |
SLC2A1 | 16 | Sep 25, 2019 |
SLC33A1 | 9 | Dec 30, 2020 |
SLC35A2 | 5 | Dec 30, 2020 |
SLC4A10 | 8 | Aug 31, 2018 |
SLC4A11 | 11 | Dec 30, 2020 |
SLC6A1 | 15 | Dec 30, 2020 |
SLC6A1-AS1 | 3 | Sep 25, 2019 |
SLC6A8 | 15 | Sep 25, 2019 |
SLC9A6 | 9 | Dec 30, 2020 |
SLITRK6 | 6 | Sep 25, 2019 |
SMC1A | 6 | Dec 30, 2020 |
SMC3 | 10 | Sep 25, 2019 |
SMCHD1 | 24 | Dec 30, 2020 |
SMN1 | 20 | Dec 30, 2020 |
SMS | 2 | Dec 30, 2020 |
SNAI2 | 1 | Sep 25, 2019 |
SNAP25 | 3 | Aug 31, 2018 |
SNAP29 | 6 | Aug 31, 2018 |
SNHG14 | 8 | Dec 30, 2020 |
SOD1 | 23 | Dec 30, 2020 |
SOS1 | 2 | Aug 17, 2017 |
SOX10 | 3 | Sep 25, 2019 |
SPART | 10 | Dec 30, 2020 |
SPAST | 77 | Dec 30, 2020 |
SPATA5 | 19 | Dec 30, 2020 |
SPG11 | 58 | Dec 30, 2020 |
SPG21 | 5 | Dec 30, 2020 |
SPG7 | 42 | Dec 30, 2020 |
SPTAN1 | 34 | Dec 30, 2020 |
SPTBN2 | 190 | Dec 30, 2020 |
SPTLC1 | 3 | Sep 25, 2019 |
SPTLC2 | 2 | Sep 25, 2019 |
SQSTM1 | 21 | Dec 30, 2020 |
SRPX2 | 5 | Sep 25, 2019 |
SSUH2 | 5 | Dec 30, 2020 |
ST3GAL3 | 5 | Sep 25, 2019 |
ST3GAL5 | 6 | Sep 25, 2019 |
STAR | 6 | Sep 25, 2019 |
STIL | 13 | Dec 30, 2020 |
STON1-GTF2A1L | 8 | Sep 25, 2019 |
STRC | 11 | Dec 30, 2020 |
STX1B | 6 | Sep 25, 2019 |
STXBP1 | 11 | Dec 30, 2020 |
SUCLA2 | 10 | Dec 30, 2020 |
SYN1 | 10 | Dec 30, 2020 |
SYNE1 | 624 | Dec 30, 2020 |
SYNE1-AS1 | 9 | Dec 30, 2020 |
SYNE2 | 127 | Dec 30, 2020 |
SYNE4 | 3 | Dec 30, 2020 |
SYNGAP1 | 7 | Dec 30, 2020 |
SYNJ1 | 23 | Dec 30, 2020 |
SYP | 1 | Aug 31, 2018 |
SYT14 | 24 | Dec 30, 2020 |
SZT2 | 41 | Dec 30, 2020 |
TACR3 | 1 | Aug 31, 2018 |
TAPBPL | 5 | Dec 30, 2020 |
TARDBP | 13 | Dec 30, 2020 |
TARID | 1 | Sep 25, 2019 |
TBC1D24 | 18 | Dec 30, 2020 |
TBCEL-TECTA | 12 | Sep 25, 2019 |
TBL1XR1 | 8 | Dec 30, 2020 |
TBX1 | 15 | Dec 30, 2020 |
TCAP | 6 | Dec 30, 2020 |
TCF4 | 11 | Dec 30, 2020 |
TCOF1 | 13 | Dec 30, 2020 |
TDP1 | 49 | Dec 30, 2020 |
TECTA | 12 | Sep 25, 2019 |
TFAP2A | 2 | Sep 25, 2019 |
TGM6 | 98 | Dec 30, 2020 |
TH | 21 | Dec 30, 2020 |
THAP1 | 7 | Dec 30, 2020 |
TIA1 | 3 | Aug 17, 2017 |
TJP2 | 11 | Dec 30, 2020 |
TK2 | 2 | Dec 30, 2020 |
TMC1 | 10 | Dec 30, 2020 |
TMEM132E | 7 | Sep 25, 2019 |
TMEM216 | 1 | Aug 17, 2017 |
TMEM43 | 7 | Dec 30, 2020 |
TMEM67 | 2 | Aug 17, 2017 |
TMPRSS3 | 4 | Dec 30, 2020 |
TNC | 20 | Dec 30, 2020 |
TNNT1 | 1 | Sep 25, 2019 |
TNXB | 3 | Dec 30, 2020 |
TPM2 | 2 | Dec 30, 2020 |
TPM3 | 2 | Sep 25, 2019 |
TPP1 | 22 | Dec 30, 2020 |
TPRN | 3 | Sep 25, 2019 |
TRAPPC11 | 26 | Dec 30, 2020 |
TRAPPC2L | 1 | Aug 31, 2018 |
TREX1 | 10 | Sep 25, 2019 |
TRIM32 | 8 | Dec 30, 2020 |
TRIOBP | 11 | Dec 30, 2020 |
TRPC6 | 18 | Dec 30, 2020 |
TRPV4 | 49 | Dec 30, 2020 |
TSC1 | 63 | Dec 30, 2020 |
TSC2 | 193 | Dec 30, 2020 |
TSEN54 | 20 | Dec 30, 2020 |
TSPAN1 | 20 | Dec 30, 2020 |
TSPEAR | 8 | Sep 25, 2019 |
TSPEAR-AS1 | 1 | Sep 25, 2019 |
TSR2 | 3 | Sep 25, 2019 |
TTBK2 | 58 | Dec 30, 2020 |
TTN | 957 | Dec 30, 2020 |
TTN-AS1 | 530 | Dec 30, 2020 |
TTPA | 14 | Dec 30, 2020 |
TTR | 26 | Dec 30, 2020 |
TUBA1A | 8 | Dec 30, 2020 |
TUBA8 | 7 | Sep 25, 2019 |
TUBB2B | 5 | Sep 25, 2019 |
TUBB6 | 2 | Dec 30, 2020 |
TWNK | 9 | Dec 30, 2020 |
TYMP | 5 | Sep 25, 2019 |
UBA1 | 3 | Sep 25, 2019 |
UBE3A | 8 | Dec 30, 2020 |
UBQLN2 | 9 | Dec 30, 2020 |
UMOD | 8 | Sep 25, 2019 |
USH1C | 5 | Sep 25, 2019 |
USH1G | 4 | Sep 25, 2019 |
USH2A | 45 | Dec 30, 2020 |
USH2A-AS1 | 3 | Sep 25, 2019 |
USH2A-AS2 | 1 | Dec 30, 2020 |
VAMP1 | 5 | Dec 30, 2020 |
VAPB | 7 | Dec 30, 2020 |
VCP | 13 | Dec 30, 2020 |
VHL | 5 | Dec 30, 2020 |
VPS13A | 50 | Dec 30, 2020 |
VPS13B | 53 | Dec 30, 2020 |
VRK1 | 1 | Aug 31, 2018 |
WASHC5 | 18 | Dec 30, 2020 |
WDR45 | 4 | Sep 25, 2019 |
WDR62 | 34 | Sep 25, 2019 |
WFS1 | 17 | Dec 30, 2020 |
WHRN | 10 | Dec 30, 2020 |
WNK1 | 21 | Dec 30, 2020 |
WT1 | 12 | Dec 30, 2020 |
WWOX | 24 | Sep 25, 2019 |
YARS1 | 9 | Dec 30, 2020 |
ZDHHC24 | 5 | Sep 25, 2019 |
ZEB2 | 10 | Dec 30, 2020 |
ZFYVE26 | 61 | Dec 30, 2020 |
ZRANB3 | 2 | Aug 31, 2018 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
22q13.3 deletion syndrome | 1 test |
3 beta-Hydroxysteroid dehydrogenase deficiency | 1 test |
ABCD syndrome | 1 test |
ALG9 congenital disorder of glycosylation | 4 tests |
Aarskog syndrome | 2 tests |
Abortive cerebellar ataxia | 1 test |
Achondroplasia | 3 tests |
Acrocephalosyndactyly type I | 1 test |
Adenylosuccinate lyase deficiency | 5 tests |
Adrenoleukodystrophy | 3 tests |
Adult proximal spinal muscular atrophy, autosomal dominant | 1 test |
Aicardi Goutieres syndrome 1 | 2 tests |
Aicardi Goutieres syndrome 2 | 2 tests |
Aicardi Goutieres syndrome 3 | 2 tests |
Aicardi Goutieres syndrome 4 | 2 tests |
Aicardi Goutieres syndrome 5 | 2 tests |
Albinism, ocular, with sensorineural deafness | 1 test |
Alexander Disease | 4 tests |
Alpha-B crystallinopathy | 2 tests |
Alport syndrome 1, X-linked recessive | 4 tests |
Alport syndrome 3, autosomal dominant | 3 tests |
Alport syndrome, autosomal recessive | 4 tests |
Alstrom syndrome | 1 test |
Alternating hemiplegia of childhood 2 | 2 tests |
Alzheimer disease | 2 tests |
Alzheimer disease 2 | 1 test |
Alzheimer disease, type 3 | 2 tests |
Alzheimer disease, type 4 | 2 tests |
Aminoglycoside-induced deafness | 1 test |
Amyloidogenic transthyretin amyloidosis | 2 tests |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 2 tests |
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 2 tests |
Amyotrophic lateral sclerosis 16, juvenile | 2 tests |
Amyotrophic lateral sclerosis 17 | 2 tests |
Amyotrophic lateral sclerosis 18 | 2 tests |
Amyotrophic lateral sclerosis 21 | 1 test |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | 2 tests |
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 4 tests |
Amyotrophic lateral sclerosis type 1 | 3 tests |
Amyotrophic lateral sclerosis type 10 | 2 tests |
Amyotrophic lateral sclerosis type 12 | 2 tests |
Amyotrophic lateral sclerosis type 2 | 6 tests |
Amyotrophic lateral sclerosis type 4 | 5 tests |
Amyotrophic lateral sclerosis type 8 | 2 tests |
Amyotrophic lateral sclerosis type 9 | 2 tests |
Amyotrophy, hereditary neuralgic | 1 test |
Andersen Tawil syndrome | 1 test |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
Angelman syndrome | 2 tests |
Aniridia 1 | 2 tests |
Apparent mineralocorticoid excess | 3 tests |
Arginine:glycine amidinotransferase deficiency | 3 tests |
Arts syndrome | 1 test |
Ataxia, spastic, 1, autosomal dominant | 3 tests |
Ataxia, spastic, 4, autosomal recessive | 3 tests |
Ataxia-hypogonadism-choroidal dystrophy syndrome | 3 tests |
Ataxia-oculomotor apraxia type 1 | 4 tests |
Ataxia-telangiectasia syndrome | 4 tests |
Ataxia-telangiectasia-like disorder 1 | 3 tests |
Ateleiotic dwarfism | 2 tests |
Atrophia bulborum hereditaria | 1 test |
Auditory neuropathy, autosomal dominant, 1 | 1 test |
Autism 17 | 1 test |
Autosomal dominant hypophosphatemic rickets | 2 tests |
Autosomal dominant isolated somatotropin deficiency | 2 tests |
Autosomal dominant medullary cystic kidney disease with hyperuricemia | 1 test |
Autosomal dominant nonsyndromic deafness 17 | 1 test |
Autosomal dominant nonsyndromic deafness 2A | 1 test |
Autosomal dominant nonsyndromic deafness 6 | 1 test |
Autosomal dominant optic atrophy classic form | 4 tests |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 4 tests |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 2 tests |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 3 tests |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | 3 tests |
Autosomal recessive DOPA responsive dystonia | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 3 tests |
Autosomal recessive non-syndromic sensorineural deafness type DFNB | 1 test |
Autosomal recessive pseudohypoaldosteronism type 1 | 6 tests |
Azorean disease | 4 tests |
Baraitser-Winter Syndrome 2 | 1 test |
Baraitser-Winter syndrome 1 | 1 test |
Bardet-Biedl syndrome | 4 tests |
Bartter disease type 4a | 3 tests |
Bartter syndrome type 3 | 2 tests |
Bartter syndrome, type 1, antenatal | 3 tests |
Bartter syndrome, type 2, antenatal | 2 tests |
Bartter syndrome, type 4b | 2 tests |
Becker muscular dystrophy | 4 tests |
Benign familial neonatal seizures 2 | 2 tests |
Beta-D-mannosidosis | 1 test |
Bethlem myopathy 1 | 1 test |
Bifunctional peroxisomal enzyme deficiency | 1 test |
Bile acid synthesis defect, congenital, 3 | 3 tests |
Biotin-responsive basal ganglia disease | 3 tests |
Borjeson-Forssman-Lehmann syndrome | 2 tests |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 tests |
Brain small vessel disease 1 with or without ocular anomalies | 2 tests |
Brain small vessel disease with hemorrhage | 1 test |
Branched-chain keto acid dehydrogenase kinase deficiency | 3 tests |
Branchiooculofacial syndrome | 1 test |
Branchiootic syndrome 1 | 1 test |
Branchiootic syndrome 3 | 1 test |
Branchiootorenal Syndrome 1 | 1 test |
Branchiootorenal syndrome 2 | 1 test |
Brody myopathy | 1 test |
Brugada syndrome 1 | 2 tests |
Brugada syndrome 9 | 2 tests |
CARASIL | 1 test |
CHARGE association | 1 test |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
Carnitine palmitoyltransferase II deficiency, infantile | 2 tests |
Cataract 16, multiple types | 1 test |
Central core myopathy | 1 test |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 1 test |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | 4 tests |
Cerebral cavernous malformation | 2 tests |
Cerebral cavernous malformations 2 | 2 tests |
Cerebral cavernous malformations 3 | 2 tests |
Cerebral folate transport deficiency | 4 tests |
Cerebrooculofacioskeletal syndrome 2 | 1 test |
Ceroid lipofuscinosis neuronal 2 | 2 tests |
Ceroid lipofuscinosis, neuronal, 11 | 2 tests |
Ceroid lipofuscinosis, neuronal, 13 | 2 tests |
Charcot-Marie-Tooth Neuropathy X Type 1 | 8 tests |
Charcot-Marie-Tooth disease and deafness | 12 tests |
Charcot-Marie-Tooth disease axonal type 2C | 8 tests |
Charcot-Marie-Tooth disease axonal type 2F | 8 tests |
Charcot-Marie-Tooth disease dominant intermediate d | 9 tests |
Charcot-Marie-Tooth disease type 2B | 7 tests |
Charcot-Marie-Tooth disease type 2B1 | 12 tests |
Charcot-Marie-Tooth disease type 2D | 8 tests |
Charcot-Marie-Tooth disease type 2E | 7 tests |
Charcot-Marie-Tooth disease type 2I | 9 tests |
Charcot-Marie-Tooth disease type 2J | 9 tests |
Charcot-Marie-Tooth disease type 2K | 9 tests |
Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 1 test |
Charcot-Marie-Tooth disease, axonal, type 2y | 1 test |
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 5 tests |
Charcot-Marie-Tooth disease, demyelinating, type 1b | 9 tests |
Charcot-Marie-Tooth disease, demyelinating, type 1d | 8 tests |
Charcot-Marie-Tooth disease, demyelinating, type 1f | 7 tests |
Charcot-Marie-Tooth disease, demyelinating, type 4F | 7 tests |
Charcot-Marie-Tooth disease, dominant intermediate B | 13 tests |
Charcot-Marie-Tooth disease, dominant intermediate C | 10 tests |
Charcot-Marie-Tooth disease, recessive intermediate A | 5 tests |
Charcot-Marie-Tooth disease, type 1C | 7 tests |
Charcot-Marie-Tooth disease, type 2A2A | 6 tests |
Charcot-Marie-Tooth disease, type 2L | 8 tests |
Charcot-Marie-Tooth disease, type 4A | 9 tests |
Charcot-Marie-Tooth disease, type 4B1 | 7 tests |
Charcot-Marie-Tooth disease, type 4B2 | 7 tests |
Charcot-Marie-Tooth disease, type 4C | 7 tests |
Charcot-Marie-Tooth disease, type 4D | 7 tests |
Charcot-Marie-Tooth disease, type 4H | 7 tests |
Charcot-Marie-Tooth disease, type 4J | 9 tests |
Charcot-Marie-Tooth disease, type IA | 11 tests |
Charlevoix-Saguenay spastic ataxia | 7 tests |
Cholestanol storage disease | 2 tests |
Cholesterol monooxygenase (side-chain cleaving) deficiency | 1 test |
Choreoacanthocytosis | 2 tests |
Christianson syndrome | 3 tests |
Chronic infantile neurological, cutaneous and articular syndrome | 1 test |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 4 tests |
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss | 2 tests |
Coenzyme Q10 deficiency, primary, 4 | 3 tests |
Cohen syndrome | 3 tests |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 1 test |
Congenital adrenal hypoplasia, X-linked | 2 tests |
Congenital cataracts, hearing loss, and neurodegeneration | 3 tests |
Congenital disorder of glycosylation type 1u | 1 test |
Congenital generalized lipodystrophy type 2 | 3 tests |
Congenital hypomyelinating neuropathy 1, autosomal recessive | 4 tests |
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 4 tests |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 6 tests |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 4 tests |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 3 tests |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 2 tests |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 2 tests |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 2 tests |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 2 tests |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 | 2 tests |
Congenital muscular hypertrophy-cerebral syndrome | 2 tests |
Congenital myasthenic syndrome 12 | 1 test |
Congenital myasthenic syndrome 13 | 1 test |
Congenital myasthenic syndrome 1B, fast-channel | 1 test |
Congenital myasthenic syndrome 3B | 1 test |
Congenital myasthenic syndrome 4C | 1 test |
Congenital myopathy with fiber type disproportion | 3 tests |
Congenital myotonia, autosomal dominant form | 3 tests |
Congenital myotonia, autosomal recessive form | 3 tests |
Corneal dystrophy-perceptive deafness syndrome | 1 test |
Cornelia de Lange syndrome 1 | 2 tests |
Cornelia de Lange syndrome 3 | 2 tests |
Corpus callosum, partial agenesis of, X-linked | 3 tests |
Cowchock syndrome | 1 test |
Craniofacial-deafness-hand syndrome | 1 test |
Craniometaphyseal dysplasia, autosomal dominant | 1 test |
Creatine transporter deficiency | 3 tests |
Crouzon syndrome | 1 test |
Cutis laxa with osteodystrophy | 2 tests |
DOORS syndrome | 1 test |
Deafness and myopia | 1 test |
Deafness dystonia syndrome | 1 test |
Deafness enamel hypoplasia nail defects | 1 test |
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 1 test |
Deafness, X-linked 1 | 1 test |
Deafness, X-linked 2 | 1 test |
Deafness, X-linked 4 | 1 test |
Deafness, X-linked 5 | 1 test |
Deafness, X-linked 6 | 1 test |
Deafness, autosomal dominant 1 | 1 test |
Deafness, autosomal dominant 10 | 1 test |
Deafness, autosomal dominant 11 | 1 test |
Deafness, autosomal dominant 12 | 1 test |
Deafness, autosomal dominant 13 | 1 test |
Deafness, autosomal dominant 15 | 1 test |
Deafness, autosomal dominant 20 | 1 test |
Deafness, autosomal dominant 22 | 1 test |
Deafness, autosomal dominant 23 | 1 test |
Deafness, autosomal dominant 25 | 1 test |
Deafness, autosomal dominant 28 | 1 test |
Deafness, autosomal dominant 2b | 1 test |
Deafness, autosomal dominant 34, with or without inflammation | 1 test |
Deafness, autosomal dominant 36 | 1 test |
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
Deafness, autosomal dominant 3a | 3 tests |
Deafness, autosomal dominant 3b | 3 tests |
Deafness, autosomal dominant 4 | 1 test |
Deafness, autosomal dominant 40 | 1 test |
Deafness, autosomal dominant 41 | 1 test |
Deafness, autosomal dominant 44 | 1 test |
Deafness, autosomal dominant 4b | 1 test |
Deafness, autosomal dominant 5 | 1 test |
Deafness, autosomal dominant 50 | 1 test |
Deafness, autosomal dominant 56 | 1 test |
Deafness, autosomal dominant 64 | 1 test |
Deafness, autosomal dominant 65 | 1 test |
Deafness, autosomal dominant 66 | 1 test |
Deafness, autosomal dominant 67 | 1 test |
Deafness, autosomal dominant 68 | 1 test |
Deafness, autosomal dominant 70 | 1 test |
Deafness, autosomal dominant 73 | 1 test |
Deafness, autosomal dominant 9 | 1 test |
Deafness, autosomal dominant, with peripheral neuropathy | 1 test |
Deafness, autosomal recessive 101 | 1 test |
Deafness, autosomal recessive 102 | 1 test |
Deafness, autosomal recessive 103 | 1 test |
Deafness, autosomal recessive 104 | 1 test |
Deafness, autosomal recessive 106 | 1 test |
Deafness, autosomal recessive 108 | 1 test |
Deafness, autosomal recessive 12 | 1 test |
Deafness, autosomal recessive 15 | 1 test |
Deafness, autosomal recessive 16 | 1 test |
Deafness, autosomal recessive 18 | 1 test |
Deafness, autosomal recessive 18b | 1 test |
Deafness, autosomal recessive 1A | 4 tests |
Deafness, autosomal recessive 1b | 3 tests |
Deafness, autosomal recessive 2 | 1 test |
Deafness, autosomal recessive 21 | 1 test |
Deafness, autosomal recessive 22 | 1 test |
Deafness, autosomal recessive 23 | 1 test |
Deafness, autosomal recessive 24 | 1 test |
Deafness, autosomal recessive 25 | 1 test |
Deafness, autosomal recessive 28 | 1 test |
Deafness, autosomal recessive 29 | 1 test |
Deafness, autosomal recessive 3 | 1 test |
Deafness, autosomal recessive 30 | 1 test |
Deafness, autosomal recessive 31 | 1 test |
Deafness, autosomal recessive 32 | 1 test |
Deafness, autosomal recessive 35 | 1 test |
Deafness, autosomal recessive 36, with or without vestibular involvement | 1 test |
Deafness, autosomal recessive 37 | 1 test |
Deafness, autosomal recessive 39 | 1 test |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 1 test |
Deafness, autosomal recessive 42 | 1 test |
Deafness, autosomal recessive 44 | 1 test |
Deafness, autosomal recessive 48 | 1 test |
Deafness, autosomal recessive 49 | 1 test |
Deafness, autosomal recessive 53 | 1 test |
Deafness, autosomal recessive 59 | 1 test |
Deafness, autosomal recessive 6 | 1 test |
Deafness, autosomal recessive 61 | 1 test |
Deafness, autosomal recessive 63 | 1 test |
Deafness, autosomal recessive 66 | 1 test |
Deafness, autosomal recessive 67 | 1 test |
Deafness, autosomal recessive 68 | 1 test |
Deafness, autosomal recessive 7 | 1 test |
Deafness, autosomal recessive 70 | 1 test |
Deafness, autosomal recessive 74 | 1 test |
Deafness, autosomal recessive 76 | 1 test |
Deafness, autosomal recessive 77 | 1 test |
Deafness, autosomal recessive 79 | 1 test |
Deafness, autosomal recessive 8 | 1 test |
Deafness, autosomal recessive 84 | 1 test |
Deafness, autosomal recessive 84b | 1 test |
Deafness, autosomal recessive 86 | 1 test |
Deafness, autosomal recessive 88 | 1 test |
Deafness, autosomal recessive 89 | 1 test |
Deafness, autosomal recessive 9 | 1 test |
Deafness, autosomal recessive 91 | 1 test |
Deafness, autosomal recessive 93 | 1 test |
Deafness, autosomal recessive 97 | 1 test |
Deafness, autosomal recessive 98 | 1 test |
Deafness, congenital, with onychodystrophy, autosomal dominant | 1 test |
Deafness, nonsyndromic sensorineural, mitochondrial | 1 test |
Deficiency of guanidinoacetate methyltransferase | 3 tests |
Deficiency of steroid 11-beta-monooxygenase | 4 tests |
Deficiency of steroid 17-alpha-monooxygenase | 1 test |
Dentatorubral-pallidoluysian atrophy | 4 tests |
Developmental malformations-deafness-dystonia syndrome | 1 test |
DiGeorge Syndrome | 3 tests |
Dihydropyrimidine dehydrogenase deficiency | 3 tests |
Dilated cardiomyopathy 1C | 1 test |
Dilated cardiomyopathy 1II | 1 test |
Dilated cardiomyopathy 1J | 1 test |
Dilated cardiomyopathy 1S | 1 test |
Distal hereditary motor neuronopathy type 2C | 1 test |
Distal hereditary motor neuronopathy type 5 | 3 tests |
Distal hereditary motor neuronopathy type 5B | 3 tests |
Distal hereditary motor neuronopathy type 7B | 1 test |
Distal spinal muscular atrophy, autosomal recessive 2 | 2 tests |
Duchenne muscular dystrophy | 4 tests |
Dyskinesia, seizures, and intellectual developmental disorder | 3 tests |
Dystonia 1 | 2 tests |
Dystonia 5 | 3 tests |
Dystonia 9 | 2 tests |
EAST syndrome | 3 tests |
Early infantile epileptic encephalopathy 10 | 2 tests |
Early infantile epileptic encephalopathy 11 | 4 tests |
Early infantile epileptic encephalopathy 12 | 2 tests |
Early infantile epileptic encephalopathy 13 | 2 tests |
Early infantile epileptic encephalopathy 14 | 3 tests |
Early infantile epileptic encephalopathy 15 | 2 tests |
Early infantile epileptic encephalopathy 17 | 2 tests |
Early infantile epileptic encephalopathy 18 | 2 tests |
Early infantile epileptic encephalopathy 2 | 6 tests |
Early infantile epileptic encephalopathy 4 | 3 tests |
Early infantile epileptic encephalopathy 5 | 3 tests |
Early infantile epileptic encephalopathy 7 | 2 tests |
Early infantile epileptic encephalopathy 8 | 3 tests |
Early infantile epileptic encephalopathy 9 | 4 tests |
Early myoclonic encephalopathy | 3 tests |
Ectodermal dysplasia/short stature syndrome | 1 test |
Eichsfeld type congenital muscular dystrophy | 3 tests |
Emery-Dreifuss muscular dystrophy 1, X-linked | 2 tests |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 4 tests |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
Encephalopathy, familial, with neuroserpin inclusion bodies | 2 tests |
Encephalopathy, progressive, with or without lipodystrophy | 3 tests |
Endplate acetylcholinesterase deficiency | 1 test |
Epilepsy | 3 tests |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 2 tests |
Epilepsy, childhood absence 5 | 3 tests |
Epilepsy, childhood absence 6 | 2 tests |
Epilepsy, familial focal, with variable foci 1 | 2 tests |
Epilepsy, familial temporal lobe, 5 | 2 tests |
Epilepsy, focal, with speech disorder and with or without mental retardation | 4 tests |
Epilepsy, hearing loss, and mental retardation syndrome | 2 tests |
Epilepsy, idiopathic generalized 10 | 2 tests |
Epilepsy, idiopathic generalized 7 | 3 tests |
Epilepsy, idiopathic generalized 8 | 2 tests |
Epilepsy, idiopathic generalized 9 | 5 tests |
Epilepsy, juvenile absence, susceptibility to, 1 | 2 tests |
Epilepsy, juvenile myoclonic 5 | 2 tests |
Epilepsy, nocturnal frontal lobe, type 1 | 2 tests |
Epilepsy, nocturnal frontal lobe, type 3 | 2 tests |
Epilepsy, nocturnal frontal lobe, type 4 | 2 tests |
Epilepsy, progressive myoclonic 3 | 3 tests |
Epilepsy, progressive myoclonic 4, with or without renal failure | 2 tests |
Epilepsy, progressive myoclonic 6 | 2 tests |
Epilepsy, progressive myoclonic 7 | 2 tests |
Epilepsy, progressive myoclonic, 9 | 2 tests |
Epileptic encephalopathy | 5 tests |
Epileptic encephalopathy, childhood-onset | 3 tests |
Epileptic encephalopathy, early infantile, 1 | 6 tests |
Epileptic encephalopathy, early infantile, 23 | 2 tests |
Epileptic encephalopathy, early infantile, 24 | 3 tests |
Epileptic encephalopathy, early infantile, 25 | 2 tests |
Epileptic encephalopathy, early infantile, 26 | 2 tests |
Epileptic encephalopathy, early infantile, 27 | 4 tests |
Epileptic encephalopathy, early infantile, 28 | 2 tests |
Epileptic encephalopathy, early infantile, 30 | 2 tests |
Epileptic encephalopathy, early infantile, 31 | 2 tests |
Epileptic encephalopathy, early infantile, 32 | 2 tests |
Epileptic encephalopathy, early infantile, 33 | 3 tests |
Epileptic encephalopathy, early infantile, 36 | 4 tests |
Epileptic encephalopathy, early infantile, 53 | 2 tests |
Epileptic encephalopathy, early infantile, 54 | 3 tests |
Epiphyseal dysplasia, multiple, with myopia and conductive deafness | 1 test |
Episodic ataxia type 1 | 6 tests |
Episodic ataxia, type 5 | 4 tests |
Episodic ataxia, type 6 | 4 tests |
FG syndrome 4 | 1 test |
Facioscapulohumeral muscular dystrophy | 1 test |
Facioscapulohumeral muscular dystrophy 2 | 1 test |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 tests |
Familial amyloid nephropathy with urticaria AND deafness | 1 test |
Familial febrile seizures 8 | 3 tests |
Familial hemiplegic migraine type 1 | 9 tests |
Familial hemiplegic migraine type 2 | 4 tests |
Familial hemiplegic migraine type 3 | 4 tests |
Familial hypertrophic cardiomyopathy 1 | 1 test |
Familial hypokalemia-hypomagnesemia | 2 tests |
Familial infantile myasthenia | 1 test |
Familial isolated deficiency of vitamin E | 4 tests |
Familial juvenile gout | 1 test |
Familial medullary thyroid carcinoma | 2 tests |
Familial temporal lobe epilepsy 1 | 3 tests |
Fatal infantile hypertonic myofibrillar myopathy | 2 tests |
Febrile seizures, familial, 11 | 2 tests |
Febrile seizures, familial, 4 | 2 tests |
Finnish congenital nephrotic syndrome | 2 tests |
Focal cortical dysplasia type II | 4 tests |
Focal epilepsy | 2 tests |
Focal segmental glomerulosclerosis 1 | 2 tests |
Focal segmental glomerulosclerosis 2 | 2 tests |
Focal segmental glomerulosclerosis 5 | 2 tests |
Friedreich ataxia 1 | 5 tests |
Frontotemporal dementia | 2 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 2 tests |
Fukuyama congenital muscular dystrophy | 4 tests |
GLUT1 deficiency syndrome 1 | 3 tests |
GNE myopathy | 1 test |
Gamma-aminobutyric acid transaminase deficiency | 3 tests |
Generalized epilepsy with febrile seizures plus, type 1 | 3 tests |
Generalized epilepsy with febrile seizures plus, type 2 | 5 tests |
Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
Generalized epilepsy with febrile seizures plus, type 9 | 2 tests |
Gillespie syndrome | 3 tests |
Glaucoma, normal tension, susceptibility to | 1 test |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria | 1 test |
Goldberg-Shprintzen megacolon syndrome | 2 tests |
Gonadotropin-independent familial sexual precocity | 1 test |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 tests |
HSD10 disease | 2 tests |
Hearing impairment | 1 test |
Heimler syndrome 2 | 1 test |
Hereditary congenital facial paresis 3 | 1 test |
Hereditary disease | 1 test |
Hereditary hearing loss and deafness | 1 test |
Hereditary insensitivity to pain with anhidrosis | 2 tests |
Hereditary liability to pressure palsies | 1 test |
Hereditary sensory and autonomic neuropathy type 1 | 2 tests |
Hereditary sensory and autonomic neuropathy type IC | 2 tests |
Hereditary sensory and autonomic neuropathy type IIA | 2 tests |
Hereditary sensory and autonomic neuropathy type IIC | 3 tests |
Hereditary sensory neuropathy type 1D | 1 test |
Hereditary sensory neuropathy type IE | 1 test |
Hereditary spastic paraplegia 10 | 4 tests |
Hereditary spastic paraplegia 12 | 4 tests |
Hereditary spastic paraplegia 13 | 4 tests |
Hereditary spastic paraplegia 15 | 5 tests |
Hereditary spastic paraplegia 2 | 3 tests |
Hereditary spastic paraplegia 39 | 4 tests |
Hereditary spastic paraplegia 3A | 5 tests |
Hereditary spastic paraplegia 5A | 4 tests |
Hereditary spastic paraplegia 6 | 4 tests |
Hereditary spastic paraplegia 7 | 5 tests |
Hereditary spastic paraplegia 8 | 4 tests |
Heterotopia, periventricular, autosomal recessive | 2 tests |
Hirschsprung disease 2 | 1 test |
Holoprosencephaly 2 | 2 tests |
Holoprosencephaly 3 | 2 tests |
Huntington disease | 2 tests |
Hyperaldosteronism, familial, type I | 1 test |
Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
Hyperinsulinism due to glucokinase deficiency | 2 tests |
Hyperinsulinism-hyperammonemia syndrome | 2 tests |
Hyperphosphatasia with mental retardation syndrome 1 | 2 tests |
Hyperphosphatasia with mental retardation syndrome 2 | 2 tests |
Hypocalcemia, autosomal dominant 1 | 1 test |
Hypocalciuric hypercalcemia, familial, type 1 | 1 test |
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | 3 tests |
Hypogonadotropic hypogonadism 11 with or without anosmia | 3 tests |
Hypogonadotropic hypogonadism 12 with or without anosmia | 3 tests |
Hypogonadotropic hypogonadism 2 with or without anosmia | 5 tests |
Hypogonadotropic hypogonadism 4 with or without anosmia | 4 tests |
Hypogonadotropic hypogonadism 5 with or without anosmia | 3 tests |
Hypogonadotropic hypogonadism 6 with or without anosmia | 3 tests |
Hypogonadotropic hypogonadism 7 with or without anosmia | 4 tests |
Hypogonadotropic hypogonadism 8 with or without anosmia | 4 tests |
Hypokalemic periodic paralysis 1 | 1 test |
Hypokalemic periodic paralysis, type 2 | 4 tests |
Hypoparathyroidism-deafness-renal disease syndrome | 1 test |
Hystrix-like ichthyosis with deafness | 1 test |
Idiopathic generalized epilepsy | 1 test |
Idiopathic nephrotic syndrome | 3 tests |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | 2 tests |
Infantile hypophosphatasia | 2 tests |
Infantile neuroaxonal dystrophy | 2 tests |
Infantile onset spinocerebellar ataxia | 3 tests |
Infantile spasms | 2 tests |
Intellectual disability, autosomal dominant 9 | 3 tests |
Islet cell hyperplasia | 2 tests |
Isolated growth hormone deficiency type IB | 3 tests |
Jervell and Lange-Nielsen syndrome 1 | 1 test |
Jervell and Lange-Nielsen syndrome 2 | 1 test |
Joubert syndrome 2 | 2 tests |
Joubert syndrome 3 | 2 tests |
Joubert syndrome 4 | 2 tests |
Joubert syndrome 5 | 2 tests |
Joubert syndrome 6 | 2 tests |
Joubert syndrome 9 | 2 tests |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 5 tests |
KBG syndrome | 2 tests |
Kabuki syndrome 1 | 1 test |
Kallmann syndrome 3 | 4 tests |
Kennedy disease | 1 test |
Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 1 test |
Keratosis follicularis | 2 tests |
Klein-Waardenberg's syndrome | 1 test |
Kniest dysplasia | 1 test |
Knuckle pads, deafness AND leukonychia syndrome | 1 test |
Kohlschutter's syndrome | 2 tests |
Koolen-de Vries syndrome | 2 tests |
Kufor-Rakeb syndrome | 2 tests |
Kugelberg-Welander disease | 4 tests |
L-2-hydroxyglutaric aciduria | 2 tests |
Lafora disease | 2 tests |
Laurence-Moon syndrome | 3 tests |
Leber's optic atrophy | 1 test |
Leigh syndrome | 2 tests |
Leptin receptor deficiency | 2 tests |
Lesch-Nyhan syndrome | 2 tests |
Leucine-induced hypoglycemia | 2 tests |
Leukodystrophy, hypomyelinating, 2 | 1 test |
Leukodystrophy, hypomyelinating, 4 | 3 tests |
Leukoencephalopathy with vanishing white matter | 6 tests |
Levy-Hollister syndrome | 1 test |
Liddle syndrome 1 | 5 tests |
Limb-girdle muscular dystrophy, type 1B | 1 test |
Limb-girdle muscular dystrophy, type 1E | 2 tests |
Limb-girdle muscular dystrophy, type 2A | 4 tests |
Limb-girdle muscular dystrophy, type 2J | 5 tests |
Limb-girdle muscular dystrophy, type 2L | 3 tests |
Limb-girdle muscular dystrophy, type 2Q | 2 tests |
Limb-girdle muscular dystrophy, type 2S | 2 tests |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 3 tests |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 3 tests |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 3 tests |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 3 tests |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 4 tests |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 2 tests |
Lipodystrophy, congenital generalized, type 4 | 1 test |
Lissencephaly 2, X-linked | 3 tests |
Lissencephaly 3 | 2 tests |
Lissencephaly 4 | 2 tests |
Lissencephaly due to LIS1 mutation | 2 tests |
Lissencephaly, X-linked | 3 tests |
Long QT syndrome 2 | 2 tests |
Luscan-lumish syndrome | 2 tests |
MASA syndrome | 3 tests |
MERRF syndrome | 3 tests |
MYH7-related late-onset scapuloperoneal muscular dystrophy | 1 test |
Macrocephaly/autism syndrome | 1 test |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
Malignant hyperthermia, susceptibility to, 1 | 1 test |
Malignant hyperthermia, susceptibility to, 5 | 1 test |
Mandibulofacial dysostosis with alopecia | 1 test |
Marinesco-Sjögren syndrome | 3 tests |
Marshall syndrome | 1 test |
Mast syndrome | 4 tests |
Maturity-onset diabetes of the young type 4 | 2 tests |
Maturity-onset diabetes of the young type 8 | 1 test |
Maturity-onset diabetes of the young, type 1 | 3 tests |
Maturity-onset diabetes of the young, type 2 | 5 tests |
Maturity-onset diabetes of the young, type 3 | 5 tests |
Megaconial type congenital muscular dystrophy | 1 test |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 test |
Mental retardation 30, X-linked | 2 tests |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 2 tests |
Mental retardation, X-linked 1 | 2 tests |
Mental retardation, X-linked 72 | 2 tests |
Mental retardation, X-linked 96 | 2 tests |
Mental retardation, X-linked 98 | 2 tests |
Mental retardation, X-linked, syndromic, Hedera type | 2 tests |
Mental retardation, X-linked, syndromic, wu type | 2 tests |
Mental retardation, autosomal dominant 1 | 2 tests |
Mental retardation, autosomal dominant 24 | 3 tests |
Mental retardation, autosomal dominant 31 | 3 tests |
Mental retardation, autosomal dominant 5 | 4 tests |
Mental retardation, autosomal dominant 7 | 2 tests |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 3 tests |
Mental retardation, syndromic, Claes-Jensen type, X-linked | 2 tests |
Mental retardation, with or without seizures, ARX-related, X-linked | 2 tests |
Merosin deficient congenital muscular dystrophy | 3 tests |
Metachromatic leukodystrophy | 1 test |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 3 tests |
Minicore myopathy with external ophthalmoplegia | 1 test |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 2 tests |
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 2 tests |
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 test |
Mitochondrial DNA depletion syndrome 2 | 2 tests |
Mitochondrial DNA depletion syndrome 4B, MNGIE type | 4 tests |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 2 tests |
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 3 tests |
Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 2 tests |
Mitochondrial complex I deficiency | 2 tests |
Mitochondrial complex III deficiency, nuclear type 1 | 1 test |
Miyoshi muscular dystrophy 1 | 4 tests |
Miyoshi muscular dystrophy 3 | 2 tests |
Mowat-Wilson syndrome | 2 tests |
Muenke syndrome | 1 test |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 3 tests |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 3 tests |
Multiple endocrine neoplasia, type 1 | 1 test |
Multiple endocrine neoplasia, type 2a | 2 tests |
Multiple endocrine neoplasia, type 2b | 2 tests |
Multiple epiphyseal dysplasia (disease) | 1 test |
Muscle eye brain disease | 4 tests |
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 1 test |
Muscular dystrophy, limb-girdle, type 2R | 4 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 4 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 1 test |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 | 2 tests |
Mutilating keratoderma | 1 test |
Myasthenia, limb-girdle, familial | 1 test |
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 1 test |
Myasthenic syndrome, congenital, 18 | 2 tests |
Myasthenic syndrome, congenital, 2a, slow-channel | 1 test |
Myasthenic syndrome, congenital, 4a, slow-channel | 1 test |
Myasthenic syndrome, congenital, 4b, fast-channel | 1 test |
Myasthenic syndrome, congenital, 8 | 1 test |
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 1 test |
Myasthenic syndrome, slow-channel congenital | 1 test |
Myoclonic dystonia 11 | 2 tests |
Myoclonic epilepsy, familial infantile | 2 tests |
Myoclonic-atonic epilepsy | 2 tests |
Myofibrillar myopathy 1 | 3 tests |
Myofibrillar myopathy 3 | 4 tests |
Myofibrillar myopathy, BAG3-related | 1 test |
Myofibrillar myopathy, ZASP-related | 2 tests |
Myofibrillar myopathy, filamin C-related | 2 tests |
Myopathy with postural muscle atrophy, X-linked | 4 tests |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 1 test |
Myopathy, centronuclear, 2 | 1 test |
Myopathy, centronuclear, 4 | 2 tests |
Myopathy, congenital, compton-north | 1 test |
Myopathy, distal, 1 | 1 test |
Myopathy, distal, 4 | 2 tests |
Myopathy, early-onset, with fatal cardiomyopathy | 4 tests |
Myopathy, myofibrillar, 9, with early respiratory failure | 4 tests |
Myopathy, myosin storage, autosomal recessive | 2 tests |
Myopathy, proximal, and ophthalmoplegia | 1 test |
Myopathy, reducing body, X-linked, childhood-onset | 3 tests |
Myopathy, reducing body, X-linked, early-onset, severe | 3 tests |
Myosin storage myopathy | 2 tests |
Myotonic dystrophy type 2 | 2 tests |
NARP syndrome | 1 test |
NDE1-related microhydranencephaly | 2 tests |
Navajo neurohepatopathy | 2 tests |
Nemaline myopathy 1 | 1 test |
Nemaline myopathy 2 | 2 tests |
Nemaline myopathy 3 | 1 test |
Nemaline myopathy 4 | 1 test |
Nemaline myopathy 5 | 1 test |
Nemaline myopathy 6 | 1 test |
Nemaline myopathy 7 | 1 test |
Nemaline myopathy 8 | 1 test |
Nephrogenic diabetes insipidus, X-linked | 2 tests |
Nephrogenic diabetes insipidus, autosomal | 2 tests |
Nephronophthisis 1 | 1 test |
Nephropathy with pretibial epidermolysis bullosa and deafness | 1 test |
Nephrotic syndrome type 15 | 2 tests |
Nephrotic syndrome, type 3 | 2 tests |
Nephrotic syndrome, type 4 | 2 tests |
Nephrotic syndrome, type 5, with or without ocular abnormalities | 2 tests |
Neurodegeneration with brain iron accumulation 5 | 3 tests |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 2 tests |
Neurofibromatosis, type 1 | 3 tests |
Neurofibromatosis, type 2 | 3 tests |
Neuronal ceroid lipofuscinosis 1 | 2 tests |
Neuronal ceroid lipofuscinosis 10 | 2 tests |
Neuronal ceroid lipofuscinosis 3 | 2 tests |
Neuronal ceroid lipofuscinosis 4B | 2 tests |
Neuronal ceroid lipofuscinosis 5 | 2 tests |
Neuronal ceroid lipofuscinosis 6 | 2 tests |
Neuronal ceroid lipofuscinosis 7 | 2 tests |
Neuronal ceroid lipofuscinosis 8 | 2 tests |
Nocturnal frontal lobe epilepsy | 2 tests |
Non-ketotic hyperglycinemia | 3 tests |
Nonsyndromic hearing loss | 1 test |
Noonan syndrome 1 | 1 test |
Noonan syndrome 3 | 2 tests |
Noonan syndrome 4 | 2 tests |
Noonan syndrome 5 | 2 tests |
Norman-Roberts syndrome | 2 tests |
Obesity | 2 tests |
Oculopharyngeal muscular dystrophy | 1 test |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 4 tests |
Orofaciodigital syndrome I | 2 tests |
Osteogenesis imperfecta type I | 2 tests |
Osteogenesis imperfecta type III | 3 tests |
Osteogenesis imperfecta with normal sclerae, dominant form | 3 tests |
Osteogenesis imperfecta, recessive perinatal lethal | 3 tests |
Osteoporosis with pseudoglioma | 1 test |
Otofaciocervical syndrome 1 | 1 test |
Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 test |
Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 test |
Paget disease of bone 3 | 1 test |
Palmoplantar keratoderma-deafness syndrome | 1 test |
Parkinson disease 1 | 3 tests |
Parkinson disease 2 | 3 tests |
Parkinson disease 4 | 3 tests |
Parkinson disease 6, autosomal recessive early-onset | 3 tests |
Parkinson disease 7 | 3 tests |
Parkinson disease 8, autosomal dominant | 3 tests |
Paroxysmal nonkinesigenic dyskinesia 1 | 1 test |
Partial albinism | 1 test |
Partington syndrome | 2 tests |
Pelger-Huët anomaly | 2 tests |
Pelizaeus-Merzbacher disease | 5 tests |
Pendred syndrome | 1 test |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 1 test |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 1 test |
Periventricular nodular heterotopia 1 | 2 tests |
Permanent neonatal diabetes mellitus | 7 tests |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 1B | 1 test |
Peroxisome biogenesis disorder 4B | 1 test |
Peroxisome biogenesis disorder 9B | 2 tests |
Perrault syndrome 1 | 1 test |
Perrault syndrome 2 | 1 test |
Perrault syndrome 3 | 1 test |
Perrault syndrome 4 | 1 test |
Perry syndrome | 1 test |
Pfeiffer syndrome | 1 test |
Pheochromocytoma | 3 tests |
Phosphoglycerate dehydrogenase deficiency | 2 tests |
Phosphoribosylpyrophosphate synthetase superactivity | 1 test |
Pierpont syndrome | 2 tests |
Pigmentary pallidal degeneration | 2 tests |
Pili torti-deafness syndrome | 1 test |
Pitt-Hopkins syndrome | 2 tests |
Pitt-Hopkins-like syndrome 1 | 2 tests |
Pitt-Hopkins-like syndrome 2 | 2 tests |
Pituitary hormone deficiency, combined 2 | 2 tests |
Pituitary hormone deficiency, combined, 1 | 2 tests |
Polycystic kidney disease 2 | 5 tests |
Polycystic kidney disease, adult type | 5 tests |
Polyglandular autoimmune syndrome, type 1 | 2 tests |
Polymicrogyria with optic nerve hypoplasia | 2 tests |
Polymicrogyria, asymmetric | 2 tests |
Polymicrogyria, bilateral frontoparietal | 2 tests |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 1 test |
Pontocerebellar hypoplasia type 1A | 1 test |
Pontocerebellar hypoplasia type 2A | 2 tests |
Pontocerebellar hypoplasia type 4 | 2 tests |
Posterior column ataxia-retinitis pigmentosa syndrome | 3 tests |
Postmenopausal osteoporosis | 1 test |
Potassium-aggravated myotonia | 5 tests |
Primary autosomal recessive microcephaly 1 | 4 tests |
Primary autosomal recessive microcephaly 2 | 4 tests |
Primary autosomal recessive microcephaly 5 | 5 tests |
Primary autosomal recessive microcephaly 6 | 2 tests |
Primary autosomal recessive microcephaly 7 | 2 tests |
Primary open angle glaucoma | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 4 tests |
Progressive myoclonus epilepsy with ataxia | 2 tests |
Progressive sclerosing poliodystrophy | 5 tests |
Pyridoxal phosphate-responsive seizures | 3 tests |
Pyridoxine-dependent epilepsy | 2 tests |
Pyruvate dehydrogenase complex deficiency | 1 test |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | 3 tests |
RAPH BLOOD GROUP SYSTEM | 1 test |
Renal cysts and diabetes syndrome | 4 tests |
Renal tubular acidosis with progressive nerve deafness | 1 test |
Renpenning syndrome 1 | 3 tests |
Rett syndrome | 2 tests |
Rett syndrome, congenital variant | 4 tests |
Rigidity and multifocal seizure syndrome, lethal neonatal | 3 tests |
Rippling muscle disease 2 | 5 tests |
Ritscher-Schinzel syndrome 1 | 3 tests |
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked | 3 tests |
SCHIZENCEPHALY | 2 tests |
SLC35A2-CDG | 5 tests |
Saethre-Chotzen syndrome | 1 test |
Salt and pepper developmental regression syndrome | 3 tests |
Sarcotubular myopathy | 3 tests |
Schinzel-Giedion syndrome | 2 tests |
Schwannomatosis 1 | 3 tests |
Schwartz-Jampel syndrome | 1 test |
Seizures | 2 tests |
Seizures, benign familial infantile, 2 | 4 tests |
Sensorineural hearing loss | 1 test |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 11 tests |
Severe X-linked myotubular myopathy | 1 test |
Severe achondroplasia with developmental delay and acanthosis nigricans | 1 test |
Severe autosomal recessive muscular dystrophy of childhood - North African type | 3 tests |
Severe myoclonic epilepsy in infancy | 2 tests |
Severe neonatal-onset encephalopathy with microcephaly | 4 tests |
Short stature, idiopathic, X-linked | 2 tests |
Short stature, idiopathic, autosomal | 1 test |
Shprintzen syndrome | 1 test |
Simpson-Golabi-Behmel syndrome type 1 | 2 tests |
Sinoatrial node dysfunction and deafness | 1 test |
Smith-Lemli-Opitz syndrome | 1 test |
Smith-Magenis syndrome | 2 tests |
Spastic ataxia 5, autosomal recessive | 4 tests |
Spastic paraplegia 11, autosomal recessive | 5 tests |
Spastic paraplegia 17 | 4 tests |
Spastic paraplegia 30, autosomal recessive | 4 tests |
Spastic paraplegia 31, autosomal dominant | 4 tests |
Spastic paraplegia 35 | 4 tests |
Spastic paraplegia 4, autosomal dominant | 5 tests |
Spastic paraplegia 42, autosomal dominant | 4 tests |
Spastic paraplegia 48, autosomal recessive | 4 tests |
Spheroid body myopathy | 3 tests |
Spinal muscular atrophy, X-linked 2 | 2 tests |
Spinal muscular atrophy, distal, autosomal recessive, 1 | 1 test |
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 1 test |
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 1 test |
Spinal muscular atrophy, type II | 4 tests |
Spinal muscular atrophy, type IV | 4 tests |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 tests |
Spinocerebellar Ataxia Type 15 | 3 tests |
Spinocerebellar ataxia 35 | 3 tests |
Spinocerebellar ataxia 7 | 4 tests |
Spinocerebellar ataxia type 1 | 4 tests |
Spinocerebellar ataxia type 10 | 4 tests |
Spinocerebellar ataxia type 11 | 3 tests |
Spinocerebellar ataxia type 12 | 3 tests |
Spinocerebellar ataxia type 13 | 3 tests |
Spinocerebellar ataxia type 14 | 3 tests |
Spinocerebellar ataxia type 17 | 4 tests |
Spinocerebellar ataxia type 19/22 | 3 tests |
Spinocerebellar ataxia type 2 | 4 tests |
Spinocerebellar ataxia type 23 | 3 tests |
Spinocerebellar ataxia type 26 | 3 tests |
Spinocerebellar ataxia type 27 | 3 tests |
Spinocerebellar ataxia type 28 | 5 tests |
Spinocerebellar ataxia type 29 | 3 tests |
Spinocerebellar ataxia type 5 | 3 tests |
Spinocerebellar ataxia type 6 | 1 test |
Spinocerebellar ataxia type 8 | 4 tests |
Spinocerebellar ataxia, autosomal recessive 10 | 3 tests |
Spinocerebellar ataxia, autosomal recessive 11 | 3 tests |
Spinocerebellar ataxia, autosomal recessive 13 | 3 tests |
Spinocerebellar ataxia, autosomal recessive 14 | 2 tests |
Spinocerebellar ataxia, autosomal recessive 8 | 3 tests |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 3 tests |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 5 tests |
Split-hand/foot malformation 1 with sensorineural hearing loss | 1 test |
Spondyloperipheral dysplasia-short ulna syndrome | 1 test |
Steinert myotonic dystrophy syndrome | 3 tests |
Stickler syndrome type 1 | 1 test |
Stickler syndrome type 2 | 1 test |
Stickler syndrome, type 4 | 1 test |
Stickler syndrome, type 5 | 1 test |
Striatal necrosis, bilateral, and progressive polyneuropathy | 4 tests |
Syndromic X-linked intellectual disability Snyder type | 2 tests |
Syndromic X-linked mental retardation, Cabezas type | 2 tests |
Temtamy preaxial brachydactyly syndrome | 1 test |
Tibial muscular dystrophy | 4 tests |
Tietz syndrome | 1 test |
Torsion dystonia 6 | 2 tests |
Townes-Brocks syndrome 1 | 1 test |
Transient neonatal diabetes mellitus 2 | 2 tests |
Transient neonatal diabetes mellitus 3 | 2 tests |
Treacher Collins syndrome 1 | 1 test |
Treacher Collins syndrome 2 | 1 test |
Treacher Collins syndrome 3 | 1 test |
Tremor, hereditary essential, 4 | 1 test |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 3 tests |
Troyer syndrome | 4 tests |
Tuberous sclerosis 1 | 3 tests |
Tuberous sclerosis 2 | 7 tests |
Type 2 diabetes mellitus | 7 tests |
Ullrich congenital muscular dystrophy 1 | 1 test |
Unverricht-Lundborg syndrome | 4 tests |
Usher Syndrome, Type III | 1 test |
Usher syndrome type 1 | 1 test |
Usher syndrome type 1D | 1 test |
Usher syndrome type 1F | 1 test |
Usher syndrome, type 1C | 1 test |
Usher syndrome, type 1G | 1 test |
Usher syndrome, type 1J | 1 test |
Usher syndrome, type 2A | 1 test |
Usher syndrome, type 2C | 1 test |
Usher syndrome, type 2D | 1 test |
Von Hippel-Lindau syndrome | 2 tests |
Waardenburg syndrome type 1 | 1 test |
Waardenburg syndrome type 2A | 1 test |
Waardenburg syndrome type 2D | 1 test |
Waardenburg syndrome type 2E | 1 test |
Waardenburg syndrome type 4A | 1 test |
Waardenburg syndrome type 4B | 1 test |
Waardenburg syndrome type 4C | 1 test |
Warburg micro syndrome 1 | 2 tests |
Welander distal myopathy | 1 test |
Werdnig-Hoffmann disease | 4 tests |
West syndrome | 2 tests |
Wolfram syndrome 1 | 1 test |
Wolfram syndrome 2 | 1 test |
Wolfram-like syndrome, autosomal dominant | 1 test |
X-linked hydrocephalus syndrome | 3 tests |
X-linked intellectual disability-hypotonic face syndrome | 2 tests |
Xeroderma pigmentosum, complementation group b | 1 test |
Xeroderma pigmentosum, group D | 1 test |
Zimmermann-Laband syndrome 2 | 1 test |
nonsyndromic sensorineural hearing loss | 1 test |