Genomic Medicine Lab (University of California San Francisco), UCSF GML
General information
Personnel
- Jessica Van Ziffle, Lab Director
Phone: 415-502-0747
Email: jessica.vanziffle@ucsf.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 326
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACAD9 | 2 | Sep 17, 2019 |
| ACO2 | 1 | Sep 17, 2019 |
| ACTA1 | 1 | Mar 31, 2021 |
| ACTB | 1 | Mar 31, 2021 |
| ACTG1 | 1 | Mar 31, 2021 |
| ACTG2 | 1 | Mar 31, 2021 |
| ADNP | 1 | Sep 17, 2019 |
| AGA | 1 | Mar 31, 2021 |
| AHDC1 | 1 | Sep 17, 2019 |
| ALG1 | 1 | Mar 31, 2021 |
| ALPL | 2 | Sep 22, 2022 |
| ALS2 | 1 | Mar 31, 2021 |
| AMPD2 | 2 | Mar 31, 2021 |
| ANKRD11 | 4 | Mar 31, 2021 |
| ANKRD17 | 1 | Sep 17, 2019 |
| AQP2 | 1 | Mar 31, 2021 |
| AR | 1 | Mar 31, 2021 |
| ARHGEF9 | 1 | Sep 22, 2022 |
| ARID1A | 2 | Mar 31, 2021 |
| ARMC9 | 1 | Sep 17, 2019 |
| ARSL | 1 | Sep 17, 2019 |
| ARX | 1 | Mar 31, 2021 |
| ASH1L | 2 | Sep 22, 2022 |
| BCL11A | 1 | May 13, 2020 |
| BCS1L | 2 | Mar 31, 2021 |
| BICD2 | 1 | Mar 31, 2021 |
| BIVM-ERCC5 | 1 | Mar 31, 2021 |
| BMP2 | 1 | Sep 17, 2019 |
| BRAF | 1 | Sep 17, 2019 |
| BRCA2 | 3 | Sep 17, 2019 |
| BRPF1 | 1 | Mar 31, 2021 |
| CACNA1A | 3 | Sep 22, 2022 |
| CBL | 1 | Sep 22, 2022 |
| CC2D2A | 1 | Sep 17, 2019 |
| CCDC8 | 1 | Sep 17, 2019 |
| CD96 | 1 | Sep 17, 2019 |
| CDK10 | 1 | Sep 22, 2022 |
| CEP55 | 2 | Mar 31, 2021 |
| CHAMP1 | 1 | Mar 31, 2021 |
| CHD3 | 2 | Mar 31, 2021 |
| CHD7 | 5 | Sep 22, 2022 |
| CHEK2 | 1 | Sep 17, 2019 |
| CNOT3 | 1 | Sep 22, 2022 |
| COL1A1 | 2 | Sep 22, 2022 |
| COL1A2 | 1 | Mar 31, 2021 |
| COL2A1 | 2 | Sep 22, 2022 |
| COL4A5 | 1 | Oct 12, 2022 |
| COL6A1 | 1 | Mar 31, 2021 |
| COL6A2 | 1 | Mar 31, 2021 |
| CSNK2B | 1 | Mar 31, 2021 |
| CTCF | 2 | Mar 31, 2021 |
| CYP1B1 | 2 | Mar 31, 2021 |
| DCDC2C | 1 | Sep 17, 2019 |
| DDB1 | 1 | Sep 17, 2019 |
| DDX3X | 2 | Mar 31, 2021 |
| DELE1 | 1 | Sep 17, 2019 |
| DGAT1 | 1 | Sep 17, 2019 |
| DHCR24 | 2 | Mar 31, 2021 |
| DLL1 | 1 | Mar 31, 2021 |
| DNAH9 | 2 | Mar 31, 2021 |
| DUSP29 | 2 | Sep 22, 2022 |
| DYNC2H1 | 4 | Sep 22, 2022 |
| DYRK1A | 2 | Sep 22, 2022 |
| ECEL1 | 1 | Mar 31, 2021 |
| EFL1 | 1 | Sep 17, 2019 |
| EFTUD2 | 1 | Mar 31, 2021 |
| EHMT1 | 1 | Sep 17, 2019 |
| EIF2S3 | 1 | Mar 31, 2021 |
| ELN | 1 | Mar 31, 2021 |
| ELP1 | 1 | Sep 17, 2019 |
| EP300 | 3 | Mar 31, 2021 |
| ERCC5 | 1 | Mar 31, 2021 |
| EXT2 | 1 | Sep 17, 2019 |
| FGD1 | 1 | Mar 31, 2021 |
| FGF8 | 1 | Sep 17, 2019 |
| FGFR2 | 1 | Mar 31, 2021 |
| FGFR3 | 2 | Sep 22, 2022 |
| FLNA | 3 | Sep 22, 2022 |
| FLNC | 1 | Mar 31, 2021 |
| FOXC2 | 1 | Mar 31, 2021 |
| FOXF1 | 1 | Sep 17, 2019 |
| FOXP2 | 1 | Mar 31, 2021 |
| FOXP3 | 1 | Mar 31, 2021 |
| FREM2 | 4 | Sep 22, 2022 |
| GATAD1 | 1 | Mar 31, 2021 |
| GDF5 | 1 | Sep 17, 2019 |
| GDF5-AS1 | 1 | Sep 17, 2019 |
| GLI2 | 2 | Sep 17, 2019 |
| GLI3 | 1 | Sep 17, 2019 |
| GNAS | 1 | Sep 17, 2019 |
| GORAB | 1 | Sep 17, 2019 |
| GRIN2A | 1 | Mar 31, 2021 |
| GRIN2D | 1 | Mar 31, 2021 |
| GTF2H5 | 1 | Mar 31, 2021 |
| HAAO | 1 | Mar 31, 2021 |
| HBA2 | 1 | Mar 31, 2021 |
| HDAC8 | 1 | Sep 22, 2022 |
| HEPHL1 | 1 | Mar 31, 2021 |
| HFE | 2 | Sep 22, 2022 |
| HFE-AS1 | 1 | Sep 22, 2022 |
| HNRNPH2 | 2 | Sep 22, 2022 |
| HRAS | 4 | Mar 31, 2021 |
| HSALR1 | 3 | Sep 22, 2022 |
| HSPG2 | 2 | Mar 31, 2021 |
| HUWE1 | 1 | Sep 17, 2019 |
| IDUA | 1 | Mar 31, 2021 |
| IFT74 | 1 | Mar 8, 2021 |
| INTS1 | 2 | Sep 17, 2019 |
| IQSEC2 | 2 | Sep 17, 2019 |
| KANSL1 | 2 | Sep 22, 2022 |
| KAT6A | 2 | Sep 17, 2019 |
| KAT6B | 2 | Sep 22, 2022 |
| KCNA2 | 1 | Sep 17, 2019 |
| KCNJ11 | 1 | Mar 31, 2021 |
| KCNK4 | 1 | Mar 31, 2021 |
| KCNK4-CATSPERZ | 1 | Mar 31, 2021 |
| KDM3B | 1 | Mar 31, 2021 |
| KIF1A | 1 | Mar 31, 2021 |
| KMT2A | 6 | Mar 31, 2021 |
| KMT2D | 6 | Mar 31, 2021 |
| KRAS | 1 | Mar 31, 2021 |
| KRIT1 | 1 | Sep 17, 2019 |
| LAMA1 | 2 | Mar 31, 2021 |
| LAMA2 | 1 | Mar 31, 2021 |
| LOC106804612 | 1 | Mar 31, 2021 |
| LOC108281177 | 1 | Mar 31, 2021 |
| LOC112543452 | 1 | Mar 31, 2021 |
| LOC121740638 | 1 | Mar 31, 2021 |
| LOC126861365 | 1 | Sep 17, 2019 |
| LOC126861834 | 1 | Mar 31, 2021 |
| LOC126862505 | 1 | Mar 31, 2021 |
| LOC126863256 | 1 | Mar 31, 2021 |
| LOC129931382 | 1 | Mar 31, 2021 |
| LOC130001386 | 1 | Sep 17, 2019 |
| LOC130064857 | 1 | Mar 31, 2021 |
| LRP1 | 2 | Sep 17, 2019 |
| LRP6 | 1 | Sep 17, 2019 |
| LRRC56 | 4 | Mar 31, 2021 |
| LZTR1 | 2 | Mar 31, 2021 |
| MAGEL2 | 2 | Mar 31, 2021 |
| MAST1 | 1 | Mar 31, 2021 |
| MBD5 | 1 | Mar 31, 2021 |
| MC4R | 1 | Sep 22, 2022 |
| MCPH1 | 1 | Mar 31, 2021 |
| MEA1 | 1 | Mar 31, 2021 |
| MECP2 | 3 | Sep 17, 2019 |
| MED13L | 1 | Mar 31, 2021 |
| METTL23 | 2 | Mar 31, 2021 |
| MMACHC | 1 | Sep 17, 2019 |
| MN1 | 1 | Sep 17, 2019 |
| MRPS22 | 1 | Mar 31, 2021 |
| MSL3 | 1 | Mar 31, 2021 |
| MTA3 | 1 | Mar 31, 2021 |
| MVP-DT | 1 | Sep 17, 2019 |
| MYH3 | 1 | Mar 31, 2021 |
| MYRF | 1 | Mar 31, 2021 |
| NALCN | 1 | Sep 17, 2019 |
| NFIB | 1 | Mar 31, 2021 |
| NODAL | 1 | Mar 31, 2021 |
| NPC1 | 1 | Sep 17, 2019 |
| NR3C2 | 1 | Mar 31, 2021 |
| NSD1 | 1 | Mar 31, 2021 |
| NSD2 | 1 | Mar 31, 2021 |
| OFD1 | 1 | Jan 5, 2022 |
| OTOG | 1 | Sep 17, 2019 |
| PBX1 | 1 | Mar 31, 2021 |
| PCDH12 | 1 | Sep 17, 2019 |
| PDCD10 | 1 | Mar 31, 2021 |
| PDHA1 | 2 | Sep 17, 2019 |
| PEX1 | 1 | Mar 31, 2021 |
| PGAP2 | 1 | Sep 17, 2019 |
| PHF8 | 1 | Mar 31, 2021 |
| PIEZO1 | 5 | Sep 22, 2022 |
| PKHD1 | 1 | Sep 17, 2019 |
| PLEKHA5 | 1 | Sep 17, 2019 |
| PLPBP | 1 | Sep 17, 2019 |
| PMM2 | 1 | Mar 31, 2021 |
| POC1A | 1 | Sep 22, 2022 |
| POGZ | 1 | Sep 17, 2019 |
| POLR1A | 1 | Mar 31, 2021 |
| POLR2F | 1 | Sep 17, 2019 |
| POLR3H | 1 | Sep 17, 2019 |
| POMT2 | 3 | Sep 22, 2022 |
| POR | 1 | Sep 17, 2019 |
| PPP2R5D | 1 | Mar 31, 2021 |
| PROKR2 | 1 | Sep 17, 2019 |
| PRRT2 | 1 | Sep 17, 2019 |
| PTEN | 1 | Sep 17, 2019 |
| PTPN11 | 8 | Mar 31, 2021 |
| PUS7 | 2 | Mar 31, 2021 |
| RAD21 | 2 | Mar 31, 2021 |
| RET | 1 | Mar 31, 2021 |
| RIT1 | 2 | Mar 31, 2021 |
| RNF113A | 1 | Sep 17, 2019 |
| ROCK2 | 2 | Mar 31, 2021 |
| RPL36A-HNRNPH2 | 2 | Sep 22, 2022 |
| RPS6KA3 | 2 | Mar 31, 2021 |
| SALL1 | 1 | Sep 17, 2019 |
| SATB2 | 2 | Mar 31, 2021 |
| SCN1B | 1 | Sep 17, 2019 |
| SCN2A | 1 | Sep 17, 2019 |
| SETBP1 | 1 | Sep 17, 2019 |
| SETSIP | 1 | Sep 22, 2022 |
| SF3B4 | 1 | Mar 31, 2021 |
| SHOC2 | 2 | Sep 22, 2022 |
| SIN3A | 1 | Mar 31, 2021 |
| SKIC3 | 1 | Sep 17, 2019 |
| SLC16A2 | 1 | Mar 31, 2021 |
| SLC17A5 | 2 | Mar 31, 2021 |
| SLC19A3 | 1 | Mar 31, 2021 |
| SLC26A1 | 1 | Mar 31, 2021 |
| SLC26A2 | 1 | Sep 17, 2019 |
| SLC6A1 | 2 | Sep 17, 2019 |
| SMAD4 | 1 | Mar 31, 2021 |
| SMAD6 | 1 | Mar 31, 2021 |
| SMC3 | 1 | Sep 17, 2019 |
| SNAP25 | 2 | Mar 31, 2021 |
| SOX10 | 1 | Sep 17, 2019 |
| SOX2 | 1 | Mar 31, 2021 |
| SOX2-OT | 1 | Mar 31, 2021 |
| SPTAN1 | 1 | Mar 31, 2021 |
| SRCAP | 1 | Sep 22, 2022 |
| SRD5A2 | 1 | Sep 17, 2019 |
| SUZ12 | 2 | Sep 22, 2022 |
| SYNE1 | 2 | Sep 22, 2022 |
| SYNGAP1 | 1 | Mar 31, 2021 |
| TANGO2 | 1 | Oct 3, 2018 |
| TBC1D23 | 1 | Mar 31, 2021 |
| TBCEL-TECTA | 1 | Sep 17, 2019 |
| TBX5 | 1 | Mar 31, 2021 |
| TCF20 | 1 | Sep 17, 2019 |
| TECTA | 1 | Sep 17, 2019 |
| TELO2 | 1 | Mar 31, 2021 |
| TFAP2A | 1 | Mar 31, 2021 |
| TFAP2A-AS2 | 1 | Mar 31, 2021 |
| TMEM237 | 3 | Sep 22, 2022 |
| TPM1 | 1 | Mar 31, 2021 |
| TPP1 | 2 | Mar 31, 2021 |
| TRAF7 | 2 | Sep 22, 2022 |
| TRPV4 | 1 | Mar 31, 2021 |
| TTN | 2 | Mar 31, 2021 |
| TTN-AS1 | 1 | Mar 31, 2021 |
| TUBA1A | 2 | Mar 31, 2021 |
| TUBB2A | 1 | Mar 31, 2021 |
| TUBB2B | 1 | Mar 31, 2021 |
| USP9X | 2 | Mar 31, 2021 |
| UTP23 | 1 | Mar 31, 2021 |
| WDFY3 | 1 | Mar 31, 2021 |
| WDR45 | 1 | Mar 31, 2021 |
| ZBTB18 | 1 | Sep 22, 2022 |
| ZC4H2 | 2 | Mar 31, 2021 |
| ZEB2 | 2 | Sep 22, 2022 |
| ZFPM2 | 1 | Sep 22, 2022 |
| ZIC3 | 1 | Sep 17, 2019 |
| ZNF335 | 2 | Sep 17, 2019 |