SMARCAL1 Chromosome 2

SNF2 related chromatin remodeling annealing helicase 1
190 variants 190 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000138375
Associated Conditions (17)
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Nephrotic syndrome
Inborn genetic diseases
See cases
Focal segmental glomerulosclerosis
Uterine corpus endometrial carcinoma
Inherited Immunodeficiency Diseases
Adrenocortical carcinoma
hereditary
Thymoma
Kidney disorder
Glioma susceptibility 1
Atypical hemolytic-uremic syndrome
9 conditions
Pilocytic astrocytoma
Familial cancer of breast
Key Variants
RS1172616375
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia
Health Risk
RS119473038
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Nephrotic syndrome, Schimke immuno-osseous dysplasia
Health Risk
RS1301876154
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS1322248626
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS138575228
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS138819354
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Inborn genetic diseases, Schimke immuno-osseous dysplasia
Health Risk
RS139445683
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia
Health Risk
RS139872089
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, See cases
Health Risk
RS139949668
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Schimke immuno-osseous dysplasia
Health Risk
RS140370927
Conflicting classifications of pathogenicity
Inborn genetic diseases, Schimke immuno-osseous dysplasia, Inborn genetic diseases
Health Risk
RS1436190761
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
RS145825654
Conflicting classifications of pathogenicity
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
Health Risk
All Variants (190)
RSID Category Clinical Significance Conditions
RS2469620766 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469620922 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469621168 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469633152 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469633269 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS267607071 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS535448005 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS571627974 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS748106387 Health Risk Pathogenic 9 conditions, Schimke immuno-osseous dysplasia, 9 conditions
RS750721291 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS754516841 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS757390175 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS758672665 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS758888999 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS760664233 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS761546902 Health Risk Pathogenic Schimke immuno-osseous dysplasia, SMARCAL1-related disorder, Familial cancer of breast
RS762590281 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS766291662 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS781023326 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS864309531 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS909012139 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS119473037 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1281345070 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1313658611 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1553526228 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1574443257 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1574450161 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Schimke immuno-osseous dysplasia, Inherited Immunodeficiency Diseases
RS1693559368 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694125419 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694436631 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS200666300 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Schimke immuno-osseous dysplasia, Inherited Immunodeficiency Diseases
RS2106055226 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, Schimke immuno-osseous dysplasia, Nephrotic syndrome
RS2469620696 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469621143 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469625357 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS751582760 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS762716070 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS956223874 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, See cases, Schimke immuno-osseous dysplasia
RS962523270 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS990873729 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
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