Clinical Genomics Laboratory (Washington University in St. Louis)
General information
Clinical Genomics Laboratory
Washington University in St. Louis
4320 Forest Park Avenue
CORTEX building, Suite 207
St.Louis
Missouri
United States - 63108
http://gps.wustl.edu/
Organization ID: 505219
Washington University in St. Louis
4320 Forest Park Avenue
CORTEX building, Suite 207
St.Louis
Missouri
United States - 63108
http://gps.wustl.edu/
Organization ID: 505219
Personnel
- Meagan Corliss, Genetic Counselor
Phone: 314-747-7337
Email: mcorliss@path.wustl.edu - Yang Cao, Lab Associate Director
Phone: 3142733225
Email: cao.yang@wustl.edu - Michelle Thompson, Variant scientist/curator
Phone: 410-972-6875
Email: michelle.t@wustl.edu - Jason Walker, Informatics staff
Phone: 3147477337
Email: jason.walker@wustl.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 528
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABL1 | 1 | Dec 12, 2023 |
| ABTB3 | 1 | Dec 12, 2023 |
| ACADSB | 1 | May 21, 2024 |
| ACBD6 | 1 | May 21, 2024 |
| ACSS2 | 1 | May 21, 2024 |
| ACVRL1 | 1 | Dec 12, 2023 |
| ADA2 | 1 | Dec 12, 2023 |
| ADAMTS10 | 2 | May 21, 2024 |
| ADAMTS19 | 1 | May 21, 2024 |
| ADCY5 | 1 | May 21, 2024 |
| ADCY6 | 2 | May 21, 2024 |
| ADGRB1 | 1 | May 21, 2024 |
| ADGRL1 | 2 | May 21, 2024 |
| ADGRL1-AS1 | 1 | May 21, 2024 |
| AIRE | 1 | Dec 12, 2023 |
| AKT1 | 1 | Dec 12, 2023 |
| ANK2 | 1 | Dec 12, 2023 |
| ANKRD11 | 2 | May 21, 2024 |
| APOL1 | 2 | Dec 12, 2023 |
| ARAF | 2 | Dec 12, 2023 |
| ARFGEF1 | 1 | May 21, 2024 |
| ARHGEF12 | 1 | May 21, 2024 |
| ASH1L | 1 | May 21, 2024 |
| ASIC2 | 1 | May 21, 2024 |
| ASXL3 | 1 | May 21, 2024 |
| ATG4D | 1 | May 21, 2024 |
| ATP11A | 1 | May 21, 2024 |
| ATP1A3 | 1 | Dec 12, 2023 |
| ATP6V1B2 | 1 | Dec 12, 2023 |
| ATRX | 1 | Dec 12, 2023 |
| BAZ2B | 1 | Dec 12, 2023 |
| BCL11A | 1 | Dec 12, 2023 |
| BMP8B | 1 | May 21, 2024 |
| BNC2 | 1 | Dec 12, 2023 |
| BRAF | 1 | Dec 12, 2023 |
| BRCA1 | 1 | May 21, 2024 |
| BRCA2 | 2 | May 21, 2024 |
| BRPF1 | 2 | May 21, 2024 |
| BSN | 2 | May 21, 2024 |
| CACNA1A | 3 | May 21, 2024 |
| CACNA1C | 1 | May 21, 2024 |
| CACNA1D | 1 | May 21, 2024 |
| CACNA1E | 1 | May 21, 2024 |
| CACNA1F | 1 | May 21, 2024 |
| CARD14 | 1 | Dec 12, 2023 |
| CBS | 1 | May 21, 2024 |
| CCDST | 4 | May 21, 2024 |
| CCNH | 2 | Dec 12, 2023 |
| CDC42 | 1 | Dec 12, 2023 |
| CDC42BPB | 1 | Dec 12, 2023 |
| CDK13 | 1 | Dec 12, 2023 |
| CDKN1C | 1 | Dec 12, 2023 |
| CELSR1 | 5 | Dec 12, 2023 |
| CFAP74 | 1 | May 21, 2024 |
| CFTR | 1 | May 21, 2024 |
| CHD1 | 1 | Dec 12, 2023 |
| CHD2 | 1 | Dec 12, 2023 |
| CHD3 | 1 | Dec 12, 2023 |
| CHD5 | 2 | May 21, 2024 |
| CHD7 | 1 | Dec 12, 2023 |
| CLDN14 | 2 | Dec 12, 2023 |
| CLDN14-AS1 | 2 | Dec 12, 2023 |
| COG1 | 1 | May 21, 2024 |
| COL10A1 | 1 | Dec 12, 2023 |
| COL11A1 | 1 | May 21, 2024 |
| COL11A2 | 1 | Dec 12, 2023 |
| COL1A1 | 1 | May 21, 2024 |
| COL21A1 | 2 | May 21, 2024 |
| COL22A1 | 2 | May 21, 2024 |
| COL4A3 | 1 | Dec 12, 2023 |
| COL9A2 | 1 | Dec 12, 2023 |
| CPEB4 | 1 | Dec 12, 2023 |
| CPOX | 1 | Dec 12, 2023 |
| CPT2 | 1 | May 21, 2024 |
| CREBBP | 1 | May 21, 2024 |
| CSTB | 1 | May 21, 2024 |
| CTNNB1 | 1 | Dec 12, 2023 |
| CYP51A1 | 2 | May 21, 2024 |
| DAGLA | 1 | Dec 12, 2023 |
| DCHS1 | 5 | Dec 12, 2023 |
| DEAF1 | 1 | Dec 12, 2023 |
| DEPDC5 | 1 | May 21, 2024 |
| DGKE | 1 | Dec 12, 2023 |
| DHTKD1 | 1 | Dec 12, 2023 |
| DLG4 | 2 | May 21, 2024 |
| DLL1 | 2 | May 21, 2024 |
| DMD | 1 | May 21, 2024 |
| DMXL2 | 2 | Dec 12, 2023 |
| DNAH11 | 1 | Dec 12, 2023 |
| DNAH5 | 2 | Dec 12, 2023 |
| DNAH8 | 1 | Dec 12, 2023 |
| DNASE1 | 1 | May 21, 2024 |
| DPYD | 1 | May 21, 2024 |
| DPYSL2 | 1 | May 21, 2024 |
| DPYSL3 | 1 | Dec 12, 2023 |
| DRD4 | 1 | May 21, 2024 |
| DSG2 | 1 | May 21, 2024 |
| DSG2-AS1 | 1 | May 21, 2024 |
| DSP | 1 | Dec 12, 2023 |
| DUSP15 | 1 | May 21, 2024 |
| DVL1 | 1 | Dec 12, 2023 |
| DYNC1H1 | 1 | May 21, 2024 |
| EARS2 | 1 | Dec 12, 2023 |
| EEF1A1 | 1 | Dec 12, 2023 |
| EFTUD2 | 1 | May 21, 2024 |
| EIF3F | 1 | Dec 12, 2023 |
| EPHB4 | 3 | Dec 12, 2023 |
| ERCC4 | 1 | May 21, 2024 |
| ESCO2 | 1 | May 21, 2024 |
| EXT1 | 1 | Dec 12, 2023 |
| EYA1 | 1 | Dec 12, 2023 |
| F11 | 1 | May 21, 2024 |
| FAT4 | 7 | May 21, 2024 |
| FBN3 | 1 | May 21, 2024 |
| FBXW11 | 1 | Dec 12, 2023 |
| FFAR4 | 1 | May 21, 2024 |
| FGFR1 | 2 | Dec 12, 2023 |
| FGFR2 | 1 | Dec 12, 2023 |
| FGFR3 | 1 | Dec 12, 2023 |
| FHOD3 | 1 | May 21, 2024 |
| FLG | 4 | May 21, 2024 |
| FLNA | 1 | May 21, 2024 |
| FLNC | 1 | May 21, 2024 |
| FLT4 | 2 | Dec 12, 2023 |
| FRMD7 | 1 | Dec 12, 2023 |
| GABBR1 | 1 | May 21, 2024 |
| GABBR2 | 1 | Dec 12, 2023 |
| GATAD1 | 1 | May 21, 2024 |
| GBA1 | 1 | May 21, 2024 |
| GBF1 | 1 | May 21, 2024 |
| GFAP | 1 | May 21, 2024 |
| GH-LCR | 1 | Dec 12, 2023 |
| GJC2 | 2 | Dec 12, 2023 |
| GLI2 | 1 | May 21, 2024 |
| GLMN | 4 | Dec 12, 2023 |
| GNA11 | 1 | Dec 12, 2023 |
| GNA14 | 2 | Dec 12, 2023 |
| GNAQ | 3 | Dec 12, 2023 |
| GNAS | 4 | May 21, 2024 |
| GPD2 | 1 | May 21, 2024 |
| GRIA1 | 1 | Dec 12, 2023 |
| HCFC1 | 1 | Dec 12, 2023 |
| HDAC4 | 1 | May 21, 2024 |
| HECW2 | 1 | Dec 12, 2023 |
| HERC1 | 1 | May 21, 2024 |
| HFE | 1 | Dec 12, 2023 |
| HNF4A | 1 | Dec 12, 2023 |
| HNRNPU | 1 | Dec 12, 2023 |
| HOMER2 | 1 | May 21, 2024 |
| HRAS | 3 | Dec 12, 2023 |
| HSALR1 | 1 | Dec 12, 2023 |
| HUWE1 | 3 | May 21, 2024 |
| IDH1 | 1 | Dec 12, 2023 |
| IDH2 | 1 | Dec 12, 2023 |
| IDUA | 1 | May 21, 2024 |
| IFIH1 | 1 | May 21, 2024 |
| IL7 | 1 | Dec 12, 2023 |
| IMMT | 1 | May 21, 2024 |
| INTS11 | 1 | May 21, 2024 |
| INVS | 1 | Dec 12, 2023 |
| IQSEC2 | 2 | Dec 12, 2023 |
| ITPR1 | 1 | May 21, 2024 |
| ITSN1 | 1 | Dec 12, 2023 |
| JARID2 | 1 | May 21, 2024 |
| JMJD1C | 1 | Dec 12, 2023 |
| KAT5 | 2 | May 21, 2024 |
| KCNC1 | 1 | May 21, 2024 |
| KCNH2 | 3 | Dec 12, 2023 |
| KCNQ1 | 2 | Dec 12, 2023 |
| KCNQ5 | 1 | Dec 12, 2023 |
| KDM3B | 1 | May 21, 2024 |
| KDM5B | 1 | May 21, 2024 |
| KDR | 2 | Dec 12, 2023 |
| KIDINS220 | 1 | Dec 12, 2023 |
| KIF11 | 1 | Dec 12, 2023 |
| KIF1A | 1 | Dec 12, 2023 |
| KIF21A | 1 | May 21, 2024 |
| KIF5A | 1 | Dec 12, 2023 |
| KLF9-DT | 1 | May 21, 2024 |
| KMT2A | 2 | Dec 12, 2023 |
| KMT2B | 2 | May 21, 2024 |
| KMT2D | 2 | May 21, 2024 |
| KMT2E | 1 | Dec 12, 2023 |
| KRAS | 3 | Dec 12, 2023 |
| KRIT1 | 2 | Dec 12, 2023 |
| KRT1 | 2 | Dec 12, 2023 |
| KRT10 | 1 | Dec 12, 2023 |
| KRT10-AS1 | 1 | Dec 12, 2023 |
| LDLR | 1 | May 21, 2024 |
| LHX4 | 1 | May 21, 2024 |
| LHX4-AS1 | 1 | May 21, 2024 |
| LIPE | 1 | May 21, 2024 |
| LIPE-AS1 | 1 | May 21, 2024 |
| LOC101930071 | 1 | May 21, 2024 |
| LOC102724058 | 2 | Dec 12, 2023 |
| LOC106627981 | 1 | May 21, 2024 |
| LOC121627952 | 1 | Dec 12, 2023 |
| LOC126806659 | 1 | Dec 12, 2023 |
| LOC126806878 | 1 | May 21, 2024 |
| LOC126860124 | 2 | Dec 12, 2023 |
| LOC126860585 | 1 | Dec 12, 2023 |
| LOC126861887 | 1 | Dec 12, 2023 |
| LOC126863018 | 1 | May 21, 2024 |
| LOC129930446 | 1 | May 21, 2024 |
| LOC129999303 | 1 | Dec 12, 2023 |
| LOC130004340 | 1 | May 21, 2024 |
| LOC130058479 | 1 | May 21, 2024 |
| LOC130066813 | 1 | Dec 12, 2023 |
| LPL | 1 | May 21, 2024 |
| LRP2 | 1 | May 21, 2024 |
| LRRC56 | 3 | Dec 12, 2023 |
| LRRK2 | 1 | May 21, 2024 |
| LRSAM1 | 1 | May 21, 2024 |
| LZTR1 | 3 | Dec 12, 2023 |
| MAGEL2 | 1 | Dec 12, 2023 |
| MAP1B | 1 | Dec 12, 2023 |
| MAP2K1 | 4 | Dec 12, 2023 |
| MAP3K3 | 1 | Dec 12, 2023 |
| MAPK8IP3 | 1 | Dec 12, 2023 |
| MARK2 | 1 | Dec 12, 2023 |
| MAST2 | 1 | May 21, 2024 |
| MC4R | 1 | May 21, 2024 |
| MED13 | 3 | Dec 12, 2023 |
| MED13L | 1 | Dec 12, 2023 |
| MFF-DT | 1 | Dec 12, 2023 |
| MID1 | 1 | May 21, 2024 |
| MMACHC | 1 | May 21, 2024 |
| MSH2 | 2 | May 21, 2024 |
| MSH6 | 2 | May 21, 2024 |
| MSI2 | 1 | Dec 12, 2023 |
| MTOR | 6 | Dec 12, 2023 |
| MXRA5 | 1 | Dec 12, 2023 |
| MYBPC3 | 2 | Dec 12, 2023 |
| MYCN | 1 | Dec 12, 2023 |
| MYH3 | 1 | May 21, 2024 |
| MYH7 | 1 | Dec 12, 2023 |
| MYO10 | 1 | Dec 12, 2023 |
| NAA10 | 1 | May 21, 2024 |
| NAA15 | 1 | May 21, 2024 |
| NAGLU | 1 | May 21, 2024 |
| NALCN | 1 | May 21, 2024 |
| NCOR1 | 1 | Dec 12, 2023 |
| NDUFA9 | 1 | Dec 12, 2023 |
| NEDD4L | 2 | Dec 12, 2023 |
| NEXMIF | 1 | May 21, 2024 |
| NF1 | 6 | Dec 12, 2023 |
| NLRP3 | 1 | May 21, 2024 |
| NMNAT1 | 1 | May 21, 2024 |
| NPR2 | 1 | May 21, 2024 |
| NRAS | 2 | Dec 12, 2023 |
| NRXN3 | 1 | May 21, 2024 |
| NSD1 | 1 | May 21, 2024 |
| NT5DC1 | 1 | Dec 12, 2023 |
| NYX | 1 | May 21, 2024 |
| OCA2 | 2 | Dec 12, 2023 |
| PACS1 | 1 | Dec 12, 2023 |
| PALB2 | 3 | May 21, 2024 |
| PCGF2 | 1 | Dec 12, 2023 |
| PDE11A | 1 | Dec 12, 2023 |
| PDE4D | 1 | May 21, 2024 |
| PDGFRB | 1 | Dec 12, 2023 |
| PEX1 | 1 | May 21, 2024 |
| PHF14 | 1 | Dec 12, 2023 |
| PHIP | 1 | May 21, 2024 |
| PIDD1 | 2 | May 21, 2024 |
| PIEZO1 | 8 | May 21, 2024 |
| PIK3CA | 25 | Dec 12, 2023 |
| PIK3CD | 1 | Dec 12, 2023 |
| PIK3R1 | 2 | Dec 12, 2023 |
| PIK3R2 | 1 | Dec 12, 2023 |
| PKD1 | 1 | Dec 12, 2023 |
| PLCG2 | 1 | May 21, 2024 |
| PLEC | 1 | Dec 12, 2023 |
| PLP1 | 1 | May 21, 2024 |
| PLXNA3 | 1 | Dec 12, 2023 |
| PMP2 | 1 | May 21, 2024 |
| PMS2 | 2 | May 21, 2024 |
| PNPLA3 | 1 | May 21, 2024 |
| POGLUT1 | 1 | May 21, 2024 |
| POGZ | 2 | May 21, 2024 |
| POLD1 | 1 | May 21, 2024 |
| POLR2A | 3 | May 21, 2024 |
| POLRMT | 2 | May 21, 2024 |
| POT1 | 1 | May 21, 2024 |
| PPFIA3 | 1 | Dec 12, 2023 |
| PPP1R3F | 1 | May 21, 2024 |
| PPP2R5D | 1 | May 21, 2024 |
| PRICKLE2 | 2 | May 21, 2024 |
| PRICKLE2-AS1 | 2 | May 21, 2024 |
| PRKACA | 1 | Dec 12, 2023 |
| PSMB11 | 1 | Dec 12, 2023 |
| PTEN | 2 | Dec 12, 2023 |
| PTPN11 | 1 | Dec 12, 2023 |
| PTPN14 | 5 | Dec 12, 2023 |
| RAB5A | 1 | Dec 12, 2023 |
| RAB9B | 1 | May 21, 2024 |
| RANBP2 | 1 | Dec 12, 2023 |
| RASA1 | 2 | Dec 12, 2023 |
| RELN | 1 | Dec 12, 2023 |
| RERE | 1 | Dec 12, 2023 |
| RET | 1 | Dec 12, 2023 |
| REV3L | 1 | Dec 12, 2023 |
| RNASEH2B | 1 | May 21, 2024 |
| ROBO4 | 1 | May 21, 2024 |
| ROR2 | 1 | May 21, 2024 |
| RORA | 1 | Dec 12, 2023 |
| RORA-AS1 | 1 | Dec 12, 2023 |
| RRAS | 1 | Dec 12, 2023 |
| RYR1 | 1 | May 21, 2024 |
| SALL1 | 1 | May 21, 2024 |
| SCN1A | 2 | Dec 12, 2023 |
| SCN2A | 1 | Dec 12, 2023 |
| SCN4A | 1 | Dec 12, 2023 |
| SCN5A | 1 | Dec 12, 2023 |
| SCN8A | 1 | May 21, 2024 |
| SDHA | 1 | Dec 12, 2023 |
| SEMA6D | 1 | Dec 12, 2023 |
| SERPINA1 | 1 | Dec 12, 2023 |
| SH3RF2 | 1 | May 21, 2024 |
| SHANK1 | 1 | Dec 12, 2023 |
| SHANK3 | 1 | Dec 12, 2023 |
| SHOC2 | 1 | May 21, 2024 |
| SIK1 | 1 | Dec 12, 2023 |
| SLC12A2 | 1 | Dec 12, 2023 |
| SLC17A8 | 1 | Dec 12, 2023 |
| SLC1A2 | 1 | Dec 12, 2023 |
| SLC25A46 | 2 | Dec 12, 2023 |
| SLC35F1 | 1 | Dec 12, 2023 |
| SLITRK2 | 1 | May 21, 2024 |
| SMAD3 | 1 | Dec 12, 2023 |
| SMO | 7 | Dec 12, 2023 |
| SNAPC4 | 2 | Dec 12, 2023 |
| SOCS1 | 1 | May 21, 2024 |
| SON | 1 | May 21, 2024 |
| SOS2 | 1 | May 21, 2024 |
| SPG11 | 1 | May 21, 2024 |
| SPI1 | 1 | Dec 12, 2023 |
| SPOP | 1 | May 21, 2024 |
| SPTAN1 | 1 | May 21, 2024 |
| SPTBN1 | 2 | May 21, 2024 |
| STAG2 | 1 | May 21, 2024 |
| STAT5B | 1 | Dec 12, 2023 |
| STX8 | 1 | Dec 12, 2023 |
| SUPT16H | 1 | Dec 12, 2023 |
| SYNGAP1 | 2 | Dec 12, 2023 |
| SYNGAP1-AS1 | 2 | Dec 12, 2023 |
| SYP | 1 | Dec 12, 2023 |
| SYP-AS1 | 1 | Dec 12, 2023 |
| TAOK1 | 1 | May 21, 2024 |
| TBL1XR1 | 1 | May 21, 2024 |
| TBL1XR1-AS1 | 1 | May 21, 2024 |
| TBX5 | 1 | May 21, 2024 |
| TEK | 8 | Dec 12, 2023 |
| TET3 | 3 | May 21, 2024 |
| TGFBR1 | 1 | May 21, 2024 |
| THSD1 | 1 | May 21, 2024 |
| TIE1 | 1 | May 21, 2024 |
| TINF2 | 1 | May 21, 2024 |
| TLK2 | 1 | May 21, 2024 |
| TMC1 | 1 | May 21, 2024 |
| TNKS2 | 1 | May 21, 2024 |
| TNRC6B | 2 | Dec 12, 2023 |
| TOP2B | 1 | May 21, 2024 |
| TP53 | 1 | Aug 21, 2017 |
| TP63 | 1 | Dec 12, 2023 |
| TRIP12 | 1 | Dec 12, 2023 |
| TRPM3 | 1 | May 21, 2024 |
| TRRAP | 2 | May 21, 2024 |
| TSC1 | 3 | Dec 12, 2023 |
| TSC2 | 4 | Dec 12, 2023 |
| TTN | 6 | May 21, 2024 |
| TTN-AS1 | 5 | May 21, 2024 |
| TTR | 1 | May 21, 2024 |
| TUBB3 | 1 | May 21, 2024 |
| UBA2 | 1 | Dec 12, 2023 |
| UBXN7 | 1 | Dec 12, 2023 |
| UCP3 | 1 | May 21, 2024 |
| UPF2 | 1 | Dec 12, 2023 |
| VAX2 | 1 | Dec 12, 2023 |
| VCF1 | 1 | May 21, 2024 |
| WBP11 | 1 | May 21, 2024 |
| WDFY3 | 2 | May 21, 2024 |
| WDR11 | 2 | Dec 12, 2023 |
| WDR24 | 2 | Dec 12, 2023 |
| WNT10A | 1 | May 21, 2024 |
| WWP1 | 1 | Dec 12, 2023 |
| ZBTB20 | 1 | Dec 12, 2023 |
| ZC2HC1A | 1 | Dec 12, 2023 |
| ZFHX3 | 1 | May 21, 2024 |
| ZFHX4 | 1 | May 21, 2024 |
| ZNF462 | 1 | Dec 12, 2023 |
| ZNF469 | 1 | May 21, 2024 |
| ZNF827 | 1 | Dec 12, 2023 |
| ZNF865 | 1 | May 21, 2024 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Acrokeratosis verruciformis of Hopf | 2 tests |
| Alport syndrome | 2 tests |
| Angioosteohypertrophic syndrome | 2 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 3 tests |
| Atypical hemolytic-uremic syndrome | 1 test |
| Autoimmune lymphoproliferative syndrome | 1 test |
| Autoimmune lymphoproliferative syndrome, type 1a | 1 test |
| Autoinflammation, immune dysregulation, and eosinophilia | 2 tests |
| Autosomal dominant Alport syndrome | 1 test |
| Autosomal dominant polycystic kidney disease | 1 test |
| Autosomal recessive Alport syndrome | 1 test |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 1 test |
| Autosomal recessive polycystic kidney disease | 1 test |
| Bannayan-Riley-Ruvalcaba syndrome | 1 test |
| Baraitser-Winter syndrome | 3 tests |
| Basal cell nevus syndrome 1 | 1 test |
| Basal cell nevus syndrome 2 | 1 test |
| Becker nevus syndrome | 2 tests |
| Beckwith-Wiedemann syndrome | 2 tests |
| Branchiootorenal Spectrum Disorders | 1 test |
| Brugada syndrome | 3 tests |
| CLOVES syndrome | 2 tests |
| Capillary malformation | 3 tests |
| Capillary malformation-arteriovenous malformation 2 | 1 test |
| Cardiac arrhythmia | 5 tests |
| Cardioacrofacial dysplasia | 1 test |
| Cardioacrofacial dysplasia 1 | 1 test |
| Cardioacrofacial dysplasia 2 | 1 test |
| Cardiofaciocutaneous syndrome 1 | 1 test |
| Cardiomyopathy | 1 test |
| Cardiomyopathy, hypertrophic, midventricular, digenic | 3 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 3 tests |
| Cerebral arteriovenous malformation | 1 test |
| Cerebral cavernous malformation | 2 tests |
| Chondrodysplasia punctata | 2 tests |
| Coenzyme Q10 deficiency | 1 test |
| Coenzyme Q10 deficiency, primary, 3 | 1 test |
| Complex cortical dysplasia with other brain malformations | 2 tests |
| Complex cortical dysplasia with other brain malformations 2 | 2 tests |
| Complex cortical dysplasia with other brain malformations 7 | 1 test |
| Complex neurodevelopmental disorder with or without congenital anomalies | 1 test |
| Complex vascular malformation with associated anomalies | 1 test |
| Congenital disorder of glycosylation | 1 test |
| Congenital hemangioma | 1 test |
| Congenital ichthyosis of skin | 1 test |
| Cowden syndrome | 1 test |
| Curry-Jones syndrome | 3 tests |
| Darier disease, segmental | 1 test |
| Deafness-lymphedema-leukemia syndrome | 1 test |
| Developmental and epileptic encephalopathy 111 | 1 test |
| Developmental and epileptic encephalopathy 6B | 1 test |
| Developmental and epileptic encephalopathy, 11 | 1 test |
| Developmental and epileptic encephalopathy, 19 | 1 test |
| Developmental and epileptic encephalopathy, 2 | 2 tests |
| Developmental and epileptic encephalopathy, 27 | 2 tests |
| Developmental and epileptic encephalopathy, 7 | 2 tests |
| Developmental and epileptic encephalopathy, 74 | 1 test |
| Developmental and epileptic encephalopathy, 78 | 1 test |
| Developmental and epileptic encephalopathy, 9 | 2 tests |
| Diabetes mellitus | 5 tests |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | 1 test |
| Encephalocraniocutaneous lipomatosis | 2 tests |
| Enchondromatosis | 1 test |
| Epidermal nevus | 2 tests |
| Epidermolytic hyperkeratosis 1 | 1 test |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 1 test |
| Epilepsy | 1 test |
| Epilepsy, familial focal, with variable foci 2 | 1 test |
| Epilepsy, familial focal, with variable foci 3 | 1 test |
| Familial aplasia of the vermis | 1 test |
| Familial benign pemphigus | 2 tests |
| Familial focal epilepsy with variable foci | 1 test |
| Familial hyperinsulinism | 1 test |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 test |
| Focal segmental glomerulosclerosis | 2 tests |
| Glomuvenous malformation | 1 test |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 test |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
| Hemangiomatosis, cutaneous, with associated features | 1 test |
| Hemimegalencephaly | 2 tests |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 test |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 test |
| Hereditary hemorrhagic telangiectasia | 1 test |
| Heterotopia, periventricular, X-linked dominant | 1 test |
| Hypereosinophilic syndrome | 1 test |
| Hyperinsulinemic hypoglycemia | 1 test |
| Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | 1 test |
| Hypertrophic cardiomyopathy | 1 test |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 2 tests |
| Hypotrichosis-lymphedema-telangiectasia syndrome | 1 test |
| IMAGe syndrome | 1 test |
| Ichthyosis | 2 tests |
| Ichthyosis bullosa of Siemens | 1 test |
| Immunodeficiency 14 | 1 test |
| Immunodeficiency 36 | 2 tests |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 test |
| Infantile myofibromatosis | 1 test |
| Isolated focal cortical dysplasia type II | 2 tests |
| Keratitis ichthyosis and deafness syndrome | 1 test |
| Left ventricular noncompaction | 2 tests |
| Linear nevus sebaceous syndrome | 2 tests |
| Lissencephaly | 2 tests |
| Long QT syndrome | 3 tests |
| Lymphangiomyomatosis | 1 test |
| Lymphatic malformation | 1 test |
| Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Maffucci syndrome | 2 tests |
| Marfan syndrome | 1 test |
| McCune-Albright syndrome | 1 test |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 3 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 3 tests |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 test |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 tests |
| Melanocytic nevus | 1 test |
| Melorheostosis | 1 test |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 test |
| Microcephaly-capillary malformation syndrome | 1 test |
| Multiple cutaneous and mucosal venous malformations | 2 tests |
| Multisystem disorder | 1 test |
| Myofibromatosis | 1 test |
| Nephronophthisis | 1 test |
| Nephrotic syndrome | 1 test |
| Neurocutaneous melanocytosis | 1 test |
| Neurodevelopmental disorder | 1 test |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 2 tests |
| Neurofibromatosis | 1 test |
| Nevus comedonicus syndrome | 2 tests |
| Noonan syndrome | 2 tests |
| Overgrowth syndrome | 1 test |
| PIK3CA related overgrowth syndrome | 2 tests |
| PTEN hamartoma tumor syndrome | 1 test |
| Parkes Weber syndrome | 1 test |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 tests |
| Periventricular nodular heterotopia | 1 test |
| Pierson syndrome | 1 test |
| Pityriasis rubra pilaris | 2 tests |
| Polycystic kidney disease | 1 test |
| Porokeratosis | 2 tests |
| Porokeratosis 7, multiple types | 1 test |
| Primary dilated cardiomyopathy | 3 tests |
| Primary lymphedema | 1 test |
| Proteus syndrome | 2 tests |
| Pyogenic granuloma | 1 test |
| RASopathy | 3 tests |
| Rare venous malformation | 1 test |
| Renal cysts and diabetes syndrome | 1 test |
| Renal dysplasia and retinal aplasia | 1 test |
| Renal hypoplasia | 1 test |
| Renal tubular dysgenesis | 1 test |
| Renal-hepatic-pancreatic dysplasia | 1 test |
| Segmental overgrowth | 1 test |
| Severe neonatal-onset encephalopathy with microcephaly | 1 test |
| Short QT syndrome | 2 tests |
| Spindle cell hemangioma | 1 test |
| Sturge-Weber syndrome | 1 test |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 test |
| Thrombotic microangiopathy | 1 test |
| Tuberous sclerosis syndrome | 2 tests |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 test |
| Usher syndrome type 2A | 1 test |
| VEXAS syndrome | 2 tests |
| Van Maldergem syndrome | 1 test |
| Vascular anomaly | 2 tests |
| Verrucous venous malformation | 1 test |
| sporadic cutaneous verruciform xanthoma | 1 test |