Variant: rs1060499548 

    present in Gene: ABL1
    present in Chromosome: 9
    Position on Chromosome: 130872961
    Alleles of this Variant: G/A

rs1060499548 in ABL1 gene and 2-3 toe syndactyly PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Abnormality of skeletal morphology PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Anus, Imperforate PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Atrial Septal Defects PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Broad eyebrow PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Clinodactyly of the 5th finger PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Congenital diaphragmatic hernia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Congenital heart disease PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Congenital pectus excavatum PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Cryptorchidism PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Cutis marmorata PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Dimple chin PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Failure to gain weight PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Flexion contracture PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Frontal bossing PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Intrauterine retardation PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Macrotia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Microcephaly (physical finding) PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Micrognathism PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Microstomia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Pneumothorax PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Short stature PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Thin lips PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Thin skin PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Unilateral ptosis PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Upward slant of palpebral fissure PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.