Pediatric Genetics Clinic (Sheba Medical Center)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 126
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AHDC1 | 2 | Jun 7, 2021 |
| ANKRD11 | 1 | Jun 7, 2021 |
| ARID1A | 1 | Jun 7, 2021 |
| ARID1B | 3 | Jun 7, 2021 |
| AUTS2 | 1 | Jun 7, 2021 |
| BCL11B | 1 | Jun 7, 2021 |
| BRPF1 | 1 | Jun 7, 2021 |
| CACNA1C | 1 | Jun 7, 2021 |
| CASK | 1 | Jun 7, 2021 |
| CCDC39 | 1 | Apr 29, 2021 |
| CCDC40 | 1 | Apr 29, 2021 |
| CDK13 | 1 | Jun 7, 2021 |
| CELSR1 | 1 | Apr 29, 2021 |
| CERS1 | 1 | Apr 29, 2021 |
| CFAP298 | 1 | Apr 29, 2021 |
| CFAP298-TCP10L | 1 | Apr 29, 2021 |
| CFAP300 | 1 | Apr 29, 2021 |
| CFAP46 | 1 | Apr 29, 2021 |
| CFAP53 | 2 | Apr 29, 2021 |
| CHAMP1 | 1 | Jun 7, 2021 |
| CLCN4 | 1 | Jun 7, 2021 |
| CNTNAP2 | 1 | Jun 7, 2021 |
| COL1A1 | 1 | Jun 7, 2021 |
| CTNNB1 | 1 | Jun 7, 2021 |
| CUL4B | 1 | Jun 7, 2021 |
| DAND5 | 1 | Apr 29, 2021 |
| DCX | 1 | Jun 7, 2021 |
| DDX3X | 1 | Jun 7, 2021 |
| DLG4 | 1 | Jun 7, 2021 |
| DNAAF1 | 1 | Apr 29, 2021 |
| DNAAF11 | 1 | Apr 29, 2021 |
| DNAH5 | 2 | Apr 29, 2021 |
| DNAH6 | 1 | Apr 29, 2021 |
| DYNC1H1 | 1 | Jun 7, 2021 |
| EFTUD2 | 1 | Jun 7, 2021 |
| EPG5 | 1 | Jun 7, 2021 |
| EPHB4 | 1 | Jun 7, 2021 |
| EVC2 | 1 | Jun 7, 2021 |
| FGFR2 | 1 | Jun 7, 2021 |
| FOXP1 | 2 | Jun 7, 2021 |
| FOXP2 | 1 | Jun 7, 2021 |
| GABRB3 | 1 | Jun 7, 2021 |
| GDF1 | 1 | Apr 29, 2021 |
| GRIN2B | 1 | Jun 7, 2021 |
| HDAC8 | 1 | Jun 7, 2021 |
| KANSL1 | 2 | Jun 7, 2021 |
| KCNMA1 | 2 | Jun 7, 2021 |
| KCNMA1-AS1 | 1 | Jun 7, 2021 |
| KCNQ2 | 2 | Jun 7, 2021 |
| KCNQ3 | 1 | Jun 7, 2021 |
| KCNT1 | 1 | Jun 7, 2021 |
| KMT2A | 1 | Jun 7, 2021 |
| KMT2D | 1 | Jun 7, 2021 |
| KMT5B | 2 | Jun 7, 2021 |
| LOC102724058 | 1 | Jun 7, 2021 |
| LOC126806658 | 1 | Jun 7, 2021 |
| LOC126860124 | 1 | Jun 7, 2021 |
| LOC126862060 | 1 | Jun 7, 2021 |
| LOC126862479 | 1 | Jun 7, 2021 |
| LOC129998021 | 1 | Jun 7, 2021 |
| MAP2K1 | 2 | Jun 7, 2021 |
| MEA1 | 2 | Jun 7, 2021 |
| MED13L | 2 | Jun 7, 2021 |
| MYT1L | 1 | Jun 7, 2021 |
| NEXMIF | 1 | Jun 7, 2021 |
| NF1 | 1 | Jun 7, 2021 |
| NSD1 | 1 | Jun 7, 2021 |
| ODAD4 | 1 | Apr 29, 2021 |
| OPHN1 | 2 | Jun 7, 2021 |
| PACS1 | 1 | Jun 7, 2021 |
| PAFAH1B1 | 1 | Jun 7, 2021 |
| PBX1 | 1 | Jun 7, 2021 |
| PKD1L1 | 1 | Apr 29, 2021 |
| POGZ | 1 | Jun 7, 2021 |
| PPP2CA | 1 | Jun 7, 2021 |
| PPP2R5D | 2 | Jun 7, 2021 |
| PTPN11 | 1 | Jun 7, 2021 |
| RB1 | 1 | Jun 7, 2021 |
| RPS6KA3 | 1 | Jun 7, 2021 |
| SATB2 | 1 | Jun 7, 2021 |
| SCN1A | 1 | Jun 7, 2021 |
| SCN2A | 1 | Jun 7, 2021 |
| SCN8A | 1 | Jun 7, 2021 |
| SCUBE3 | 1 | Jun 7, 2021 |
| SETBP1 | 1 | Jun 7, 2021 |
| SETD1A | 1 | Jun 7, 2021 |
| SETD2 | 1 | Jun 7, 2021 |
| SHH | 1 | Jun 7, 2021 |
| SLC1A4 | 1 | Jun 7, 2021 |
| SMAD4 | 1 | Jun 7, 2021 |
| SMC1A | 3 | Jun 7, 2021 |
| SNHG14 | 1 | Jun 7, 2021 |
| SOX9 | 1 | Jun 7, 2021 |
| SSR4 | 1 | Jun 7, 2021 |
| STXBP1 | 2 | Jun 7, 2021 |
| SYNGAP1 | 1 | Jun 7, 2021 |
| SYNGAP1-AS1 | 1 | Jun 7, 2021 |
| SYT1 | 1 | Jun 7, 2021 |
| TBL1XR1 | 1 | Jun 7, 2021 |
| TBR1 | 1 | Jun 7, 2021 |
| TCF20 | 2 | Jun 7, 2021 |
| TCF4 | 2 | Jun 7, 2021 |
| TRIP12 | 1 | Jun 7, 2021 |
| TRMT1 | 2 | Jun 7, 2021 |
| TRMT10A | 1 | Jun 7, 2021 |
| TSEN54 | 1 | Jun 7, 2021 |
| TSPAN7 | 1 | Jun 7, 2021 |
| TUBA1A | 1 | Jun 7, 2021 |
| TWIST1 | 1 | Jun 7, 2021 |
| UBE3A | 1 | Jun 7, 2021 |
| USP7 | 1 | Jun 7, 2021 |
| VPS13B | 2 | Jun 7, 2021 |
| WDR45 | 1 | Jun 7, 2021 |
| YWHAG | 1 | Jun 7, 2021 |
| ZC4H2 | 1 | Jun 7, 2021 |
| ZEB2 | 1 | Jun 7, 2021 |
| ZSWIM6 | 1 | Jun 7, 2021 |