Klinisk genetik och genomik Research (Gothenburg University)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 38
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADAMTSL4 | 1 | Sep 25, 2019 |
| ADAMTSL4-AS2 | 1 | Sep 25, 2019 |
| AXIN2 | 1 | Mar 30, 2021 |
| CYP26B1 | 2 | Sep 25, 2019 |
| EFNB1 | 1 | Jun 25, 2019 |
| ERF | 2 | Sep 25, 2019 |
| FBN1 | 1 | Sep 25, 2019 |
| FGFR2 | 2 | Nov 9, 2023 |
| FOXP1 | 1 | Nov 9, 2023 |
| IGF1R | 1 | Jun 25, 2019 |
| IL11RA | 1 | Sep 25, 2019 |
| KAT6A | 1 | Nov 9, 2023 |
| KIAA0586 | 1 | Nov 9, 2023 |
| KMT2D | 1 | Jun 26, 2019 |
| LOC129998021 | 2 | Mar 30, 2021 |
| MSX1 | 1 | Sep 25, 2019 |
| NSD2 | 1 | Dec 1, 2023 |
| POR | 1 | Sep 25, 2019 |
| PTCH1 | 2 | Sep 25, 2019 |
| RUNX2 | 1 | Mar 30, 2021 |
| SPECC1L | 2 | Sep 25, 2019 |
| SPECC1L-ADORA2A | 2 | Sep 25, 2019 |
| TCF12 | 3 | Nov 9, 2023 |
| TGFBR1 | 1 | Sep 25, 2019 |
| TWIST1 | 4 | Dec 1, 2023 |
| WDR19 | 1 | Sep 25, 2019 |
| YY1 | 1 | Nov 9, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acrocephalosyndactyly type I | 1 | Nov 9, 2023 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 1 | Sep 25, 2019 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Nov 9, 2023 |
| Craniofrontonasal syndrome | 1 | Jun 25, 2019 |
| Craniosynostosis syndrome | 19 | Mar 30, 2021 |
| Crouzon syndrome | 1 | Mar 30, 2021 |
| Gabriele de Vries syndrome | 1 | Nov 9, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Nov 9, 2023 |
| Joubert syndrome 23 | 1 | Nov 9, 2023 |
| Kabuki syndrome 1 | 1 | Jun 26, 2019 |
| Rauch-Steindl syndrome | 1 | Dec 1, 2023 |
| Saethre-Chotzen syndrome | 4 | Dec 1, 2023 |
| Syndromic craniosynostosis | 4 | Dec 1, 2023 |
| TCF12-related craniosynostosis | 1 | Nov 9, 2023 |