Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0014850
Disease:
Esophageal Atresia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551563
Disease:
Microcephaly (physical finding) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C1861028
Disease:
Esophageal atresia with or without tracheoesophageal fistula 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0281361
Disease:
Adenocarcinoma of pancreas 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0017636
Disease:
Glioblastoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0025149
Disease:
Medulloblastoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs113994115
rs113994115
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0206663
Disease:
Neuroectodermal Tumor, Primitive 		0.010 GeneticVariation BEFREE H3.3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system (CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications? 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C3887678
Disease:
Central Nervous System Embryonal Tumor, Not Otherwise Specified 		0.010 GeneticVariation BEFREE Multiplex ligation-dependent probe amplification analysis revealed PDGFR-alpha amplification and EGFR gain in two cases and N-Myc amplification in one case of H3.3 G34R mutated CNS-PNET. 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0017636
Disease:
Glioblastoma 		0.010 GeneticVariation BEFREE The K27M (AAG → ATG, lysine → methionine) mutation was found in 33 glioblastomas (26 %); the G34R (GGG → AGG, glycine → arginine) was observed in 6 glioblastomas (5.5 %). 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0006118
Disease:
Brain Neoplasms 		0.010 GeneticVariation BEFREE In conclusion, because pediatric patients with glioblastoma and CNS-PNET are treated according to different therapeutic protocols, these findings may raise further concerns about the reliability of the histological diagnosis in the case of an undifferentiated brain tumor harbouring G34R H3.3 mutation. 23354654 2013
dbSNP: rs121913666
rs121913666
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913667
rs121913667
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0796068
Disease:
Oculodigitoesophagoduodenal syndrome 		A 0.700 CausalMutation CLINVAR