| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
AAGAACACAGGGGAGAGCA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. | 21533187 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. | 20577567 | 2010 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. | 28650561 | 2017 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. | 24803665 | 2014 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. | 25912702 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. | 23726368 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. | 14974085 | 2004 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). | 24628801 | 2014 |