Myllykangas group (University of Helsinki)
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 43
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| APP | 1 | May 5, 2020 |
| ATRIP | 1 | Oct 27, 2021 |
| ATRIP-TREX1 | 1 | Oct 27, 2021 |
| C1R | 2 | Oct 27, 2021 |
| CACNA1A | 1 | May 5, 2020 |
| CCM2 | 2 | Oct 27, 2021 |
| CHMP2B | 1 | Oct 27, 2021 |
| CLU | 1 | Jun 21, 2017 |
| COL4A1 | 3 | Oct 27, 2021 |
| COL4A2 | 1 | May 5, 2020 |
| COL4A2-AS1 | 1 | May 5, 2020 |
| COLGALT1 | 1 | Oct 27, 2021 |
| DIAPH1 | 1 | Oct 27, 2021 |
| DNAJC13 | 1 | Oct 27, 2021 |
| GRIN2A | 1 | Oct 27, 2021 |
| HTRA1 | 2 | Oct 27, 2021 |
| ITM2B | 1 | May 5, 2020 |
| KRIT1 | 1 | May 5, 2020 |
| LOC114827827 | 1 | May 5, 2020 |
| MARCHF4 | 2 | May 14, 2017 |
| MTHFR | 1 | Oct 27, 2021 |
| NMNAT2 | 1 | Oct 27, 2021 |
| NOTCH3 | 2 | May 5, 2020 |
| NPPA | 1 | May 5, 2020 |
| NPPA-AS1 | 1 | May 5, 2020 |
| PCDH11X | 1 | May 14, 2017 |
| PCNT | 1 | Oct 27, 2021 |
| POLG | 1 | Oct 27, 2021 |
| POLGARF | 1 | Oct 27, 2021 |
| PRNP | 1 | Oct 27, 2021 |
| PSEN2 | 1 | May 5, 2020 |
| SLC20A2 | 1 | Oct 27, 2021 |
| SMAD4 | 1 | Oct 27, 2021 |
| SNCA | 1 | Oct 27, 2021 |
| THSD1 | 1 | Oct 27, 2021 |
| TMEM106B | 1 | May 5, 2020 |
| TREX1 | 1 | Oct 27, 2021 |
| TSC2 | 1 | Oct 27, 2021 |
| TUBB2A | 1 | Oct 27, 2021 |
| UBQLN2 | 1 | Oct 27, 2021 |
| UNC13C | 1 | May 14, 2017 |
| VPS13A | 1 | Oct 27, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alzheimer disease | 3 | Jun 21, 2017 |
| Frontotemporal dementia | 2 | May 14, 2017 |
| Vascular dementia | 38 | Oct 27, 2021 |