ISCA Site 6, ISCA6
Personnel
- Erin Riggs, Coordinator
Email: [email protected] - Erin Riggs, Coordinator
Phone: 7703139087
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2555
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC6 | 2 | Feb 28, 2017 |
| ABR | 1 | Feb 28, 2017 |
| AGAP1 | 1 | Feb 28, 2017 |
| AGAP5 | 1 | Feb 28, 2017 |
| AGBL1 | 1 | Feb 28, 2017 |
| AGBL4 | 1 | Feb 28, 2017 |
| AGR3 | 1 | Feb 28, 2017 |
| AKR7A3 | 1 | Feb 28, 2017 |
| ANKRD11 | 2 | Feb 28, 2017 |
| ANKS1B | 2 | Feb 28, 2017 |
| ANO5 | 1 | Feb 28, 2017 |
| APOL3 | 1 | Feb 28, 2017 |
| ARFGEF3 | 1 | Feb 28, 2017 |
| ARHGAP26 | 1 | Feb 28, 2017 |
| ARSA | 1 | Feb 28, 2017 |
| ARSL | 2 | Feb 28, 2017 |
| ARX | 2 | Feb 28, 2017 |
| ASCL3 | 1 | Feb 28, 2017 |
| ASTN2 | 4 | Feb 28, 2017 |
| AUTS2 | 5 | Feb 28, 2017 |
| AVPR2 | 3 | Feb 28, 2017 |
| BASP1 | 1 | Feb 28, 2017 |
| BCAS3 | 1 | Feb 28, 2017 |
| BCHE | 1 | Feb 28, 2017 |
| BHMT2 | 1 | Feb 28, 2017 |
| BST2 | 1 | Feb 28, 2017 |
| C3orf33 | 1 | Feb 28, 2017 |
| CACNA2D3 | 1 | Feb 28, 2017 |
| CADM2 | 1 | Feb 28, 2017 |
| CADPS | 1 | Feb 28, 2017 |
| CAMTA1 | 1 | Feb 28, 2017 |
| CCDC60 | 1 | Feb 28, 2017 |
| CCSER1 | 1 | Feb 28, 2017 |
| CD36 | 1 | Feb 28, 2017 |
| CDON | 1 | Feb 28, 2017 |
| CENPP | 1 | Feb 28, 2017 |
| CEP85L | 2 | Feb 28, 2017 |
| CFAP299 | 1 | Feb 28, 2017 |
| CFAP46 | 1 | Feb 28, 2017 |
| CHD7 | 1 | Feb 28, 2017 |
| CHIC1 | 1 | Feb 28, 2017 |
| CHN2 | 1 | Feb 28, 2017 |
| CILP2 | 1 | Feb 28, 2017 |
| CLCN3 | 1 | Feb 28, 2017 |
| CLCNKA | 1 | Feb 28, 2017 |
| CLCNKB | 1 | Feb 28, 2017 |
| CLEC3A | 1 | Feb 28, 2017 |
| CNBD1 | 1 | Feb 28, 2017 |
| CNTN2 | 1 | Feb 28, 2017 |
| CNTN4 | 10 | Feb 28, 2017 |
| CNTNAP2 | 3 | Feb 28, 2017 |
| COMMD9 | 1 | Feb 28, 2017 |
| COTL1 | 1 | Feb 28, 2017 |
| COX8C | 1 | Feb 28, 2017 |
| CRLF1 | 1 | Feb 28, 2017 |
| CSMD1 | 2 | Feb 28, 2017 |
| CSMD3 | 1 | Feb 28, 2017 |
| CTNNA3 | 10 | Feb 28, 2017 |
| CTSE | 1 | Feb 28, 2017 |
| CTXN1 | 1 | Feb 28, 2017 |
| CYP2C18 | 1 | Feb 28, 2017 |
| CYP2C8 | 1 | Feb 28, 2017 |
| DCDC1 | 1 | Feb 28, 2017 |
| DEF8 | 1 | Feb 28, 2017 |
| DGKB | 1 | Feb 28, 2017 |
| DGKI | 1 | Feb 28, 2017 |
| DHCR7 | 1 | Feb 28, 2017 |
| DLG2 | 4 | Feb 28, 2017 |
| DLGAP2 | 1 | Feb 28, 2017 |
| DMD | 3 | Feb 28, 2017 |
| DNAH9 | 1 | Feb 28, 2017 |
| DNAJB3 | 1 | Feb 28, 2017 |
| DOCK2 | 1 | Feb 28, 2017 |
| DOCK4 | 1 | Feb 28, 2017 |
| DOCK8 | 4 | Feb 28, 2017 |
| DYNC2H1 | 1 | Feb 28, 2017 |
| ECM2 | 1 | Feb 28, 2017 |
| EHMT1 | 6 | Feb 28, 2017 |
| ELP4 | 2 | Feb 28, 2017 |
| ENOX1 | 1 | Feb 28, 2017 |
| EPAS1 | 1 | Feb 28, 2017 |
| EPHA3 | 1 | Feb 28, 2017 |
| EPHB2 | 1 | Feb 28, 2017 |
| ERC1 | 1 | Feb 28, 2017 |
| ERC2 | 1 | Feb 28, 2017 |
| ERICH1 | 1 | Feb 28, 2017 |
| EVI5 | 1 | Feb 28, 2017 |
| EXOSC6 | 1 | Feb 28, 2017 |
| EYS | 2 | Feb 28, 2017 |
| F8 | 1 | Feb 28, 2017 |
| FAHD2B | 1 | Feb 28, 2017 |
| FAM117B | 1 | Feb 28, 2017 |
| FARS2 | 1 | Feb 28, 2017 |
| FCGR1A | 1 | Feb 28, 2017 |
| FENDRR | 2 | Feb 28, 2017 |
| FER1L6 | 1 | Feb 28, 2017 |
| FHIT | 4 | Feb 28, 2017 |
| FMN2 | 1 | Feb 28, 2017 |
| FNIP1 | 1 | Feb 28, 2017 |
| FOXD2 | 1 | Feb 28, 2017 |
| FOXI2 | 1 | Feb 28, 2017 |
| FOXK1 | 1 | Feb 28, 2017 |
| FRMPD2 | 3 | Feb 28, 2017 |
| FTMT | 1 | Feb 28, 2017 |
| FTO | 1 | Feb 28, 2017 |
| GABRB3 | 1 | Feb 28, 2017 |
| GALNT13 | 1 | Feb 28, 2017 |
| GATAD1 | 1 | Feb 28, 2017 |
| GCDH | 2 | Feb 28, 2017 |
| GLI3 | 2 | Feb 28, 2017 |
| GP1BB | 1 | Feb 28, 2017 |
| GPC3 | 1 | Feb 28, 2017 |
| GPHN | 1 | Feb 28, 2017 |
| GRIK4 | 1 | Feb 28, 2017 |
| GRIP1 | 1 | Feb 28, 2017 |
| GSAP | 1 | Feb 28, 2017 |
| GSTM3 | 1 | Feb 28, 2017 |
| H2BC18 | 1 | Feb 28, 2017 |
| HCAR2 | 1 | Feb 28, 2017 |
| HPR | 1 | Feb 28, 2017 |
| HRG | 1 | Feb 28, 2017 |
| HS3ST4 | 2 | Feb 28, 2017 |
| HSD17B13 | 1 | Feb 28, 2017 |
| HSF2BP | 1 | Feb 28, 2017 |
| HYDIN | 1 | Feb 28, 2017 |
| IMMP2L | 1 | Feb 28, 2017 |
| INPP4B | 1 | Feb 28, 2017 |
| INSL4 | 1 | Feb 28, 2017 |
| KATNAL2 | 3 | Feb 28, 2017 |
| KCNIP1 | 1 | Feb 28, 2017 |
| KHDRBS2 | 1 | Feb 28, 2017 |
| KIAA1217 | 1 | Feb 28, 2017 |
| LARGE1 | 2 | Feb 28, 2017 |
| LDLRAD4 | 1 | Feb 28, 2017 |
| LINC02914 | 1 | Feb 28, 2017 |
| LPP | 1 | Feb 28, 2017 |
| LRP1B | 2 | Feb 28, 2017 |
| LRRC7 | 1 | Feb 28, 2017 |
| LUZP2 | 1 | Feb 28, 2017 |
| MACROD2 | 9 | Feb 28, 2017 |
| MAD1L1 | 1 | Feb 28, 2017 |
| MAFF | 1 | Feb 28, 2017 |
| MAGI2 | 3 | Feb 28, 2017 |
| MATN3 | 1 | Feb 28, 2017 |
| MBD5 | 1 | Feb 28, 2017 |
| MCCC1 | 1 | Feb 28, 2017 |
| MCM9 | 1 | Feb 28, 2017 |
| ME1 | 1 | Feb 28, 2017 |
| MED12L | 1 | Feb 28, 2017 |
| MFHAS1 | 1 | Feb 28, 2017 |
| MGAT4C | 1 | Feb 28, 2017 |
| MICAL3 | 1 | Feb 28, 2017 |
| MRPS16 | 1 | Feb 28, 2017 |
| NCKAP5 | 1 | Feb 28, 2017 |
| NEURL1B | 1 | Feb 28, 2017 |
| NKAIN2 | 1 | Feb 28, 2017 |
| NR5A1 | 2 | Feb 28, 2017 |
| NRARP | 1 | Feb 28, 2017 |
| NRG3 | 2 | Feb 28, 2017 |
| NRXN1 | 9 | Feb 28, 2017 |
| NTF3 | 1 | Feb 28, 2017 |
| NTSR1 | 1 | Feb 28, 2017 |
| NXF2B | 2 | Feb 28, 2017 |
| NXN | 1 | Feb 28, 2017 |
| OCIAD2 | 1 | Feb 28, 2017 |
| OCRL | 1 | Feb 28, 2017 |
| OFD1 | 1 | Feb 28, 2017 |
| OPCML | 1 | Feb 28, 2017 |
| PAPPA2 | 1 | Feb 28, 2017 |
| PARG | 1 | Feb 28, 2017 |
| PBOV1 | 1 | Feb 28, 2017 |
| PCDH11X | 1 | Feb 28, 2017 |
| PCDH15 | 1 | Feb 28, 2017 |
| PCDH9 | 3 | Feb 28, 2017 |
| PCDHB@ | 7 | Feb 28, 2017 |
| PCDHGA1 | 1 | Feb 28, 2017 |
| PCDHGA10 | 1 | Feb 28, 2017 |
| PCDHGA2 | 1 | Feb 28, 2017 |
| PCDHGA3 | 1 | Feb 28, 2017 |
| PCDHGA4 | 1 | Feb 28, 2017 |
| PCDHGA5 | 1 | Feb 28, 2017 |
| PCDHGA6 | 1 | Feb 28, 2017 |
| PCDHGA7 | 1 | Feb 28, 2017 |
| PCDHGA8 | 1 | Feb 28, 2017 |
| PCDHGA9 | 1 | Feb 28, 2017 |
| PCDHGB1 | 1 | Feb 28, 2017 |
| PCDHGB2 | 1 | Feb 28, 2017 |
| PCDHGB3 | 1 | Feb 28, 2017 |
| PCDHGB4 | 1 | Feb 28, 2017 |
| PCDHGB5 | 1 | Feb 28, 2017 |
| PCDHGB6 | 1 | Feb 28, 2017 |
| PCDHGB7 | 1 | Feb 28, 2017 |
| PHEX | 3 | Feb 28, 2017 |
| PIBF1 | 1 | Feb 28, 2017 |
| PIGM | 1 | Feb 28, 2017 |
| PIK3C2G | 2 | Feb 28, 2017 |
| PKHD1 | 1 | Feb 28, 2017 |
| PORCN | 1 | Feb 28, 2017 |
| PRKG1 | 1 | Feb 28, 2017 |
| PRKN | 5 | Feb 28, 2017 |
| PRR5 | 1 | Feb 28, 2017 |
| PTCH1 | 4 | Feb 28, 2017 |
| PTEN | 1 | Feb 28, 2017 |
| PTPRD | 2 | Feb 28, 2017 |
| PTPRN2 | 1 | Feb 28, 2017 |
| RAB3GAP2 | 1 | Feb 28, 2017 |
| RABGGTB | 1 | Feb 28, 2017 |
| RAI1 | 1 | Feb 28, 2017 |
| RAP1GAP2 | 1 | Feb 28, 2017 |
| RBFOX1 | 10 | Feb 28, 2017 |
| RBM44 | 1 | Feb 28, 2017 |
| RBMS1 | 1 | Feb 28, 2017 |
| RDH16 | 1 | Feb 28, 2017 |
| RET | 2 | Feb 28, 2017 |
| REV3L | 1 | Feb 28, 2017 |
| RNF135 | 2 | Feb 28, 2017 |
| RP9 | 1 | Feb 28, 2017 |
| RPL17 | 2 | Feb 28, 2017 |
| RPL17-C18orf32 | 2 | Feb 28, 2017 |
| RPL36A-HNRNPH2 | 1 | Feb 28, 2017 |
| RSRC1 | 1 | Feb 28, 2017 |
| RUNX2 | 1 | Feb 28, 2017 |
| SCN5A | 6 | Feb 28, 2017 |
| SCNN1B | 1 | Feb 28, 2017 |
| SEMA5A | 1 | Feb 28, 2017 |
| SGCG | 1 | Feb 28, 2017 |
| SKA1 | 1 | Feb 28, 2017 |
| SKA3 | 1 | Feb 28, 2017 |
| SLC12A7 | 1 | Feb 28, 2017 |
| SLC15A5 | 1 | Feb 28, 2017 |
| SLC17A5 | 1 | Feb 28, 2017 |
| SLC30A10 | 1 | Feb 28, 2017 |
| SLC35F4 | 1 | Feb 28, 2017 |
| SLC39A11 | 1 | Feb 28, 2017 |
| SLC4A1 | 1 | Feb 28, 2017 |
| SLCO1B3 | 1 | Feb 28, 2017 |
| SNX29 | 1 | Feb 28, 2017 |
| SOD1 | 1 | Feb 28, 2017 |
| SOHLH1 | 1 | Feb 28, 2017 |
| SOX9 | 1 | Feb 28, 2017 |
| SPECC1 | 1 | Feb 28, 2017 |
| SPSB2 | 1 | Feb 28, 2017 |
| SRD5A2 | 1 | Feb 28, 2017 |
| SRGAP3 | 1 | Feb 28, 2017 |
| SRPK2 | 1 | Feb 28, 2017 |
| ST6GALNAC3 | 1 | Feb 28, 2017 |
| STPG2 | 1 | Feb 28, 2017 |
| SYT10 | 1 | Feb 28, 2017 |
| SYTL2 | 1 | Feb 28, 2017 |
| TAOK3 | 1 | Feb 28, 2017 |
| TBCK | 1 | Feb 28, 2017 |
| THADA | 1 | Feb 28, 2017 |
| THSD4 | 1 | Feb 28, 2017 |
| TLL1 | 1 | Feb 28, 2017 |
| TMC1 | 1 | Feb 28, 2017 |
| TMEM219 | 1 | Feb 28, 2017 |
| TMLHE | 1 | Feb 28, 2017 |
| TNR | 1 | Feb 28, 2017 |
| TOP3B | 2 | Feb 28, 2017 |
| TP53 | 1 | Feb 28, 2017 |
| TP63 | 1 | Feb 28, 2017 |
| TRIM32 | 1 | Feb 28, 2017 |
| TRIM37 | 1 | Feb 28, 2017 |
| TRIM61 | 2 | Feb 28, 2017 |
| TRPM1 | 1 | Feb 28, 2017 |
| TTC28 | 1 | Feb 28, 2017 |
| UBE3A | 3 | Feb 28, 2017 |
| UGT1A10 | 1 | Feb 28, 2017 |
| UGT1A3 | 1 | Feb 28, 2017 |
| UGT1A4 | 1 | Feb 28, 2017 |
| UGT1A5 | 1 | Feb 28, 2017 |
| UGT1A6 | 1 | Feb 28, 2017 |
| UGT1A7 | 1 | Feb 28, 2017 |
| UGT1A8 | 1 | Feb 28, 2017 |
| UGT1A9 | 1 | Feb 28, 2017 |
| UNC79 | 1 | Feb 28, 2017 |
| UTP6 | 1 | Feb 28, 2017 |
| VIPR2 | 1 | Feb 28, 2017 |
| VPS13B | 5 | Feb 28, 2017 |
| VWDE | 1 | Feb 28, 2017 |
| WDR62 | 1 | Feb 28, 2017 |
| YIPF7 | 1 | Feb 28, 2017 |
| YWHAE | 1 | Feb 28, 2017 |
| ZDHHC8 | 1 | Feb 28, 2017 |
| ZFHX3 | 1 | Feb 28, 2017 |
| ZMYM5 | 1 | Feb 28, 2017 |
| ZNF486 | 1 | Feb 28, 2017 |
| ZNF493 | 1 | Feb 28, 2017 |
| ZNF517 | 1 | Feb 28, 2017 |
| ZNF83 | 1 | Feb 28, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| See cases | 2555 | Feb 8, 2019 |