Gene: ASXL1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. 25921057

2015
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. 26364555

2015
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 22419483

2012
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. 22436456

2012
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. 21368916

2011
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
dbSNP: rs1555912285
rs1555912285
ASXL1
CAA 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. 15040442

2004