Dan Cohn Lab (University of California Los Angeles)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 232
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DYNC2H1 | 132 | Sep 1, 2017 |
| DYNC2I1 | 6 | Sep 1, 2017 |
| DYNC2I2 | 7 | Sep 1, 2017 |
| DYNC2LI1 | 1 | Sep 1, 2017 |
| EVC | 6 | Sep 1, 2017 |
| EVC2 | 13 | Sep 1, 2017 |
| FUZ | 2 | Sep 1, 2017 |
| IFT140 | 5 | Sep 1, 2017 |
| IFT172 | 1 | Sep 1, 2017 |
| IFT43 | 1 | Sep 1, 2017 |
| IFT52 | 1 | Sep 1, 2017 |
| IFT74 | 2 | Sep 1, 2017 |
| IFT80 | 7 | Sep 1, 2017 |
| IFT88 | 1 | Sep 1, 2017 |
| INTU | 2 | Sep 1, 2017 |
| LBR | 2 | Sep 1, 2017 |
| LOC105371046 | 4 | Sep 1, 2017 |
| LOC126806174 | 1 | Sep 1, 2017 |
| LOC126806961 | 2 | Sep 1, 2017 |
| LOC126807151 | 1 | Sep 1, 2017 |
| LOC126860772 | 3 | Sep 1, 2017 |
| NEK1 | 12 | Sep 1, 2017 |
| SPTAN1 | 1 | Sep 1, 2017 |
| TRAF3IP1 | 4 | Sep 1, 2017 |
| TRIM59-IFT80 | 7 | Sep 1, 2017 |
| TTC21B | 10 | Sep 1, 2017 |
| TTC21B-AS1 | 1 | Sep 1, 2017 |
| WDR19 | 11 | Sep 1, 2017 |
| WDR35 | 6 | Sep 1, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Asphyxiating thoracic dystrophy 3 | 80 | Sep 1, 2017 |
| Ellis-van Creveld syndrome | 5 | Sep 1, 2017 |
| Jeune thoracic dystrophy | 105 | Sep 1, 2017 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 31 | Sep 1, 2017 |
| Type IV short rib polydactyly syndrome | 11 | Sep 1, 2017 |