RBM10, RNA binding motif protein 10, 8241

N. diseases: 99; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR RBM10 regulates alternative splicing. 24530524 2014
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 24259342 2014
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR RBM10 regulates alternative splicing. 24530524 2014
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR RBM10 regulates alternative splicing. 24530524 2014
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 24259342 2014
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 24259342 2014
dbSNP: rs1556770954
rs1556770954
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C1839463
Disease:
TARP syndrome 		G 0.700 CausalMutation CLINVAR Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 21910224 2011
dbSNP: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 21910224 2011
dbSNP: rs1556770954
rs1556770954
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C1839463
Disease:
TARP syndrome 		G 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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		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: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: rs1556779417
rs1556779417
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131690789
rs1131690789
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1556778986
rs1556778986
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C1839463
Disease:
TARP syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267607000
rs267607000
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C1839463
Disease:
TARP syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886044715
rs886044715
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C1839463
Disease:
TARP syndrome 		CA 0.700 CausalMutation CLINVAR