Gene: RBM10 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556779417
rs1556779417
RBM10
C 0.700 CausalMutation CLINVAR Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. 28577551

2017
dbSNP: rs1556779417
rs1556779417
RBM10
C 0.700 CausalMutation CLINVAR RBM10 regulates alternative splicing. 24530524

2014
dbSNP: rs1556779417
rs1556779417
RBM10
C 0.700 CausalMutation CLINVAR Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 24259342

2014
dbSNP: rs1556779417
rs1556779417
RBM10
C 0.700 CausalMutation CLINVAR Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 21910224

2011
dbSNP: rs1556779417
rs1556779417
RBM10
C 0.700 CausalMutation CLINVAR Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. 20451169

2010
dbSNP: rs1556779417
rs1556779417
RBM10
C 0.700 CausalMutation CLINVAR Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 5410571

1970
dbSNP: rs1131690789
rs1131690789
RBM10
C 0.700 CausalMutation CLINVAR