ISCA site 4
Personnel
- Erin Riggs
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2979
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALX4 | 1 | Jun 21, 2014 |
| ANK2 | 1 | Jun 21, 2014 |
| ANOS1 | 1 | Jun 21, 2014 |
| ASTN2 | 1 | Jun 21, 2014 |
| ATP7A | 2 | Jun 21, 2014 |
| AUTS2 | 2 | Feb 8, 2019 |
| B3GNTL1 | 2 | Jun 21, 2014 |
| BTRC | 1 | Jun 21, 2014 |
| CACNA1B | 1 | Jun 21, 2014 |
| CALN1 | 1 | Jun 21, 2014 |
| CCSER1 | 1 | Jun 21, 2014 |
| CDKL5 | 1 | Jun 21, 2014 |
| CHL1 | 4 | Jun 21, 2014 |
| CHL1-AS2 | 1 | Jun 21, 2014 |
| CNTN4 | 7 | Jun 21, 2014 |
| CNTNAP2 | 6 | Jun 21, 2014 |
| CNTNAP3 | 1 | Jun 21, 2014 |
| CTNS | 5 | Feb 23, 2017 |
| DGKB | 1 | Jun 21, 2014 |
| DHRSX | 1 | Jun 21, 2014 |
| DLG2 | 1 | Jun 21, 2014 |
| DLGAP2 | 1 | Jun 21, 2014 |
| DMD | 8 | Jun 21, 2014 |
| DOCK3 | 1 | Jun 21, 2014 |
| DOCK8 | 7 | Feb 23, 2017 |
| DOK6 | 1 | Jun 21, 2014 |
| DUSP22 | 6 | Jun 21, 2014 |
| EHMT1 | 1 | Jun 21, 2014 |
| EXOC4 | 1 | Jun 21, 2014 |
| EYS | 1 | Jun 21, 2014 |
| FAM20C | 1 | Jun 21, 2014 |
| FBN1 | 1 | Jun 21, 2014 |
| FHIT | 3 | Jun 21, 2014 |
| FMR1 | 1 | Jun 21, 2014 |
| FOXG1 | 1 | Jun 21, 2014 |
| FTSJ1 | 2 | Jun 21, 2014 |
| GALR1 | 1 | Jun 21, 2014 |
| GAS8 | 1 | Jun 21, 2014 |
| GJA5 | 2 | Jun 21, 2014 |
| GPC5 | 3 | Jun 21, 2014 |
| GPC6 | 2 | Jun 21, 2014 |
| GRIA3 | 1 | Jun 21, 2014 |
| GRID2 | 1 | Jun 21, 2014 |
| GRIP1 | 1 | Jun 21, 2014 |
| HDAC4 | 1 | Jun 21, 2014 |
| HYDIN | 3 | Jun 21, 2014 |
| IGH | 55 | Jun 21, 2014 |
| IGK | 1 | Jun 21, 2014 |
| IGSF11 | 1 | Jun 21, 2014 |
| IL1RAPL1 | 1 | Jun 21, 2014 |
| IMMP2L | 1 | Jun 21, 2014 |
| IQSEC3 | 1 | Jun 21, 2014 |
| KATNAL2 | 1 | Jun 21, 2014 |
| KIAA1328 | 1 | Jun 21, 2014 |
| KLF12 | 1 | Jun 21, 2014 |
| LETM1 | 1 | Jun 21, 2014 |
| LINC01237 | 27 | Jun 21, 2014 |
| LMNB1 | 2 | Jun 21, 2014 |
| LOC100506403 | 1 | Jun 21, 2014 |
| LOC101927151 | 1 | Jun 21, 2014 |
| LOC101928269 | 1 | Feb 8, 2019 |
| LOC101928978 | 1 | Jun 21, 2014 |
| LOC106029240 | 1 | Jun 21, 2014 |
| LRRC4C | 1 | Jun 21, 2014 |
| MACROD2 | 4 | Jun 21, 2014 |
| MAOA | 2 | Jun 21, 2014 |
| MECP2 | 1 | Jun 21, 2014 |
| MID1 | 1 | Jun 21, 2014 |
| NALF1 | 1 | Jun 21, 2014 |
| NCAM2 | 1 | Jun 21, 2014 |
| NEBL | 1 | Jun 21, 2014 |
| NR2F2 | 4 | Jun 21, 2014 |
| NRG1 | 1 | Jun 21, 2014 |
| NRG3 | 1 | Jun 21, 2014 |
| NRXN1 | 13 | Feb 8, 2019 |
| NRXN3 | 1 | Jun 21, 2014 |
| NXF5 | 1 | Jun 21, 2014 |
| OPCML | 1 | Jun 21, 2014 |
| PAFAH1B1 | 2 | Jun 21, 2014 |
| PARG | 1 | Jun 21, 2014 |
| PAX6 | 1 | Jun 21, 2014 |
| PCDH11X | 2 | Jun 21, 2014 |
| PDE11A | 1 | Jun 21, 2014 |
| PDE4D | 1 | Jun 21, 2014 |
| PHF14 | 1 | Jun 21, 2014 |
| PLEKHG4B | 1 | Jun 21, 2014 |
| POTEI | 2 | Jun 21, 2014 |
| PPP1R12B | 1 | Jun 21, 2014 |
| PRKN | 4 | Jun 21, 2014 |
| PRSS1 | 17 | Jun 21, 2014 |
| PSD3 | 1 | Jun 21, 2014 |
| PTPRN2 | 1 | Jun 21, 2014 |
| RAF1 | 1 | Jun 21, 2014 |
| RBFOX1 | 17 | Jun 21, 2014 |
| RPH3AL | 1 | Jun 21, 2014 |
| RS1 | 1 | Jun 21, 2014 |
| SDK1 | 1 | Jun 21, 2014 |
| SGCZ | 1 | Jun 21, 2014 |
| SLC3A1 | 1 | Jun 21, 2014 |
| SMYD3 | 1 | Jun 21, 2014 |
| SNHG14 | 13 | Jun 21, 2014 |
| SNORD116@ | 7 | Jun 21, 2014 |
| SNRPN | 4 | Jun 21, 2014 |
| SORCS2 | 1 | Jun 21, 2014 |
| SOX6 | 1 | Jun 21, 2014 |
| SPRY3 | 1 | Jun 21, 2014 |
| STRC | 6 | Jun 21, 2014 |
| SYTL5 | 1 | Jun 21, 2014 |
| TARS3 | 2 | Jun 21, 2014 |
| TBC1D5 | 1 | Jun 21, 2014 |
| TBX1 | 1 | Jun 21, 2014 |
| TCOF1 | 1 | Jun 21, 2014 |
| TNR | 1 | Jun 21, 2014 |
| TRA | 12 | Jun 21, 2014 |
| TRB | 30 | Jun 21, 2014 |
| TSNAX-DISC1 | 1 | Jun 21, 2014 |
| TSPAN7 | 2 | Jun 21, 2014 |
| UBE3A | 2 | Jun 21, 2014 |
| VCX3A | 1 | Jun 21, 2014 |
| VIPR2 | 1 | Jun 21, 2014 |
| VPS13B | 1 | Jun 21, 2014 |
| WWOX | 1 | Jun 21, 2014 |
| ZC3H12B | 1 | Jun 21, 2014 |
| ZIC2 | 3 | Jun 21, 2014 |
| ZMYND11 | 1 | Jun 21, 2014 |
| ZNF268 | 1 | Jun 21, 2014 |
| ZNF41 | 2 | Jun 21, 2014 |
| ZNF718 | 3 | Jun 21, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| See cases | 2979 | Feb 8, 2019 |