Noonan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
Adult Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
Childhood Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
Trichoepithelioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found.
|
28554764 |
2017 |
Noonan syndrome-like disorder with loose anagen hair
|
|
0.010 |
GeneticVariation
|
BEFREE |
The facial and hair abnormalities of the HRAS p.Gly13Asp individuals differ from the typical pattern observed in those showing the common HRAS (p.Gly12Ser) mutation, with less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen hair and individuals harboring another amino acid substitution in HRAS (p.Gly13Cys).
|
28371260 |
2017 |
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although some individuals with HRAS p.Gly13Asp developed papillomata and vascular proliferation lesions, no malignant tumors occurred, similar to what was reported for individuals harboring the HRAS p.Gly13Cys.
|
28371260 |
2017 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
Retinal Dystrophies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
Gastric Adenocarcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Squamous cell carcinoma of skin
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Multiple Myeloma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Mammary Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Cutaneous Melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Uterine Cervical Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Chronic Lymphocytic Leukemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Squamous cell carcinoma of skin
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |