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