SETBP1 Chromosome 18
SET binding protein 1
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What This Gene Does
This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Associated Conditions (27)
Intellectual disability
autosomal dominant 29
Inborn genetic diseases
SETBP1-related disorder
Schinzel-Giedion syndrome
Joint laxity
Generalized joint hypermobility
Delayed speech and language development
Seizure
Macrocephaly
Malignant lymphoma
large B-cell
diffuse
Colorectal cancer
Thyroid cancer
nonmedullary
1
Cervical cancer
Hereditary spastic paraplegia 8
See cases
+7 more conditions
Key Variants
RS1000055196
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 29, Intellectual disability
Health Risk
RS1006561792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1011541536
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 29, SETBP1-related disorder
Health Risk
RS1013272556
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome
Health Risk
RS1019850669
Conflicting classifications of pathogenicity
Inborn genetic diseases, SETBP1-related disorder, Inborn genetic diseases
Health Risk
RS1037280105
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1045476042
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1050799252
Conflicting classifications of pathogenicity
Health Risk
RS1156250216
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1160869968
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1193044740
Conflicting classifications of pathogenicity
Health Risk
RS1197935007
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (210)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS606231272 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome |
| RS606231273 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 29, Schinzel-Giedion syndrome |
| RS672601342 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 29, Intellectual disability |
| RS797045952 | Health Risk | Pathogenic | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29 |
| RS886041469 | Health Risk | Pathogenic | SETBP1-related disorder, Intellectual disability, autosomal dominant 29 |
| RS1178702025 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 29 |
| RS1599367726 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS267607042 | Health Risk | Pathogenic/Likely pathogenic | Schinzel-Giedion syndrome, Intellectual disability, autosomal dominant 29 |
| RS376371660 | Health Risk | Pathogenic/Likely pathogenic | Schinzel-Giedion syndrome, Schinzel-Giedion syndrome |
| RS74499808 | Health Risk | Pathogenic/Likely pathogenic | Schinzel-Giedion syndrome, SETBP1-related disorder, Schinzel-Giedion syndrome |