Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 CausalMutation CLINVAR Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. 22926243

2012
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 CausalMutation CLINVAR Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. 19382114

2009
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 CausalMutation CLINVAR HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. 21850009

2011
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 12439896

2002
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Molecular and clinical features of inherited neuropathies due to PMP22 duplication. 26076881

2015
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. 10369870

1999
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience. 24726093

2014
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. 9004143

1996
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. 10211478

1999
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 11523566

2001
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. 23781966

2013
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. 18592125

2008
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. 9543325

1998
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 18698610

2008
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. 24646194

2014
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR The PMP22 gene and its related diseases. 23224996

2013
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation. 7728152

1995
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation. 24534835

2014
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR [The reflexotherapy of patients with respiratory allergoses]. 1523566

1992
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. 24668782

2014
dbSNP: rs104894621
rs104894621
PMP22
A 0.700 CausalMutation CLINVAR Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. 8275092

1993