MAB21L2, mab-21 like 2, 10586

N. diseases: 22; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777511
rs587777511
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. 25719200 2015
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. 25719200 2015
dbSNP: rs587777513
rs587777513
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. 25719200 2015
dbSNP: rs587777514
rs587777514
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. 25719200 2015
dbSNP: rs587777511
rs587777511
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 24906020 2014
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 24906020 2014
dbSNP: rs587777513
rs587777513
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 24906020 2014
dbSNP: rs587777514
rs587777514
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 24906020 2014
dbSNP: rs587777511
rs587777511
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs587777511
rs587777511
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777513
rs587777513
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs587777513
rs587777513
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777514
rs587777514
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4014540
Disease:
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C0015393
Disease:
Eye Abnormalities 		0.010 GeneticVariation BEFREE MAB21L2(R51C) is one of the five documented MAB21L2 mutations in human patients with bilateral eye malformations identified via whole exome sequencing. 30375740 2018
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C0029422
Disease:
Osteochondrodysplasias 		0.010 GeneticVariation BEFREE Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree. 25719200 2015
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C0410528
Disease:
Skeletal dysplasia 		0.010 GeneticVariation BEFREE Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree. 25719200 2015
dbSNP: rs587777511
rs587777511
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4255043
Disease:
Microphthalmos co-occurrent with congenital ocular coloboma 		0.010 GeneticVariation BEFREE Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. 24906020 2014
dbSNP: rs587777511
rs587777511
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C2931500
Disease:
Microphthalmia and mental deficiency 		0.010 GeneticVariation BEFREE Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. 24906020 2014
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C2931500
Disease:
Microphthalmia and mental deficiency 		0.010 GeneticVariation BEFREE Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. 24906020 2014
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C0003119
Disease:
Anophthalmos 		0.010 GeneticVariation BEFREE Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. 24906020 2014
dbSNP: rs587777512
rs587777512
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C4255043
Disease:
Microphthalmos co-occurrent with congenital ocular coloboma 		0.010 GeneticVariation BEFREE Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family. 24906020 2014
dbSNP: rs587777513
rs587777513
Entrez Id: 987;10586
Gene Symbol: LRBA;MAB21L2
LRBA;MAB21L2
CUI: C0009363
Disease:
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation BEFREE The fourth heterozygous mutation (c.145G>A [p.Glu49Lys]) affected an amino acid within two residues of Arg51 in an adult male with bilateral colobomata. 24906020 2014