| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. | 25957469 | 2015 |
|||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
C | 0.700 | GeneticVariation | CLINVAR | A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. | 29314551 | 2018 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. | 27381093 | 2016 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. | 25957469 | 2015 |
|||
|
CATT | 0.700 | CausalMutation | CLINVAR | Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. | 25957469 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |