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 |