| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Lethal presentation of neurofibromatosis and Noonan syndrome. | 21567923 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. | 20308328 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. | 16399795 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? | 21340158 | 2010 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. | 26785492 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. | 20577567 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
AAGAACACAGGGGAGAGCA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |