ASXL1 Chromosome 20

ASXL transcriptional regulator 1
222 variants 222 Health Risk

Upload your DNA to see your personal genotypes for variants in ASXL1.

What This Gene Does
This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Associated Conditions (26)
Inborn genetic diseases
Bohring-Opitz syndrome
ASXL1-related disorder
Intellectual disability
Autism spectrum disorder
Rubinstein Taybi like syndrome
Myelodysplastic syndrome
Microcephaly
Myelodysplasia
Primary brain neoplasm
Neurodevelopmental abnormality
Atypical chronic myeloid leukemia
BCR-ABL1 negative
10 conditions
dystrophia
Developmental delay
Thyroid cancer
nonmedullary
1
Neoplasm
+6 more conditions
Key Variants
RS1023881021
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1158922559
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1180135415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1182909497
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1228100817
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1244161898
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1266042922
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1272820357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1279708959
Conflicting classifications of pathogenicity
Bohring-Opitz syndrome, Inborn genetic diseases, Bohring-Opitz syndrome
Health Risk
RS1292056366
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1365687375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1375830737
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (222)
RSID Category Clinical Significance Conditions
RS778883995 Health Risk Conflicting classifications of pathogenicity —
RS779180512 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779837740 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781545960 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS886042532 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS988568801 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Inborn genetic diseases, Bohring-Opitz syndrome
RS1555900832 Health Risk Likely pathogenic —
RS1555912392 Health Risk Likely pathogenic —
RS1555912974 Health Risk Likely pathogenic —
RS1569337176 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1600592990 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2011469389 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2011469981 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2011567269 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2011568558 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2011901554 Health Risk Likely pathogenic Rubinstein Taybi like syndrome, Rubinstein Taybi like syndrome
RS2048205050 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2123221798 Health Risk Likely pathogenic —
RS2123267182 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2145360404 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515557358 Health Risk Likely pathogenic Myelodysplastic syndrome, Myelodysplastic syndrome
RS2515566678 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515576575 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515583794 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515584691 Health Risk Likely pathogenic Bohring-Opitz syndrome, Myelodysplastic syndrome, Bohring-Opitz syndrome
RS748946310 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS751021760 Health Risk Likely pathogenic —
RS765327792 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS786205552 Health Risk Likely pathogenic —
RS1057518458 Health Risk Pathogenic —
RS1064793988 Health Risk Pathogenic —
RS1064796100 Health Risk Pathogenic —
RS1064796772 Health Risk Pathogenic —
RS111316898 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1167715259 Health Risk Pathogenic ASXL1-related disorder, ASXL1-related disorder
RS1221031683 Health Risk Pathogenic Microcephaly, Microcephaly
RS1254271466 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1261178797 Health Risk Pathogenic Myelodysplasia, Myelodysplasia
RS1311986203 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1366953593 Health Risk Pathogenic Bohring-Opitz syndrome, Primary brain neoplasm, Bohring-Opitz syndrome
RS1427299519 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1486082302 Health Risk Pathogenic —
RS1555901138 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1555911496 Health Risk Pathogenic —
RS1555911508 Health Risk Pathogenic —
RS1555911515 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912285 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912296 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912419 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555912648 Health Risk Pathogenic ASXL1-related disorder, ASXL1-related disorder
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