Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. 21438134

2011
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. 21850009

2011
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR An unexpected new role of mutant Ras: perturbation of human embryonic development. 17211612

2007
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.830 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		G 0.710 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		G 0.710 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027

2013
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		A 0.710 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027

2013
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		G 0.710 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327

2009
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		A 0.710 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371

2009
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		A 0.710 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327

2009
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		G 0.710 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371

2009
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		A 0.710 CausalMutation CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584

2007
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		G 0.710 CausalMutation CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584

2007
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		A 0.710 CausalMutation CLINVAR

dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		G 0.710 CausalMutation CLINVAR

dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016