| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | BEFREE | We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. | 30443000 | 2019 |
||||
|
0.730 | GeneticVariation | BEFREE | KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant. | 26521233 | 2015 |
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|
0.730 | GeneticVariation | BEFREE | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 |
||||
|
T | 0.730 | CausalMutation | CLINVAR | ||||||
|
0.720 | GeneticVariation | BEFREE | We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. | 30443000 | 2019 |
||||
|
0.720 | GeneticVariation | BEFREE | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 |
||||
|
G | 0.720 | CausalMutation | CLINVAR | ||||||
|
0.710 | GeneticVariation | BEFREE | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 |
||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. | 30443000 | 2019 |
||||
|
0.010 | GeneticVariation | BEFREE | Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. | 22683711 | 2012 |