ASXL2 Chromosome 2
ASXL transcriptional regulator 2
Upload your DNA to see your personal genotypes for variants in ASXL2.
What This Gene Does
This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]
Associated Conditions (6)
See cases
Inborn genetic diseases
Shashi-Pena syndrome
ASXL2-related disorder
Intellectual disability
Autism spectrum disorder
Key Variants
RS1261543038
Conflicting classifications of pathogenicity
Health Risk
RS1287433846
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1304362773
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1354885963
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1366633810
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1392187299
Conflicting classifications of pathogenicity
Shashi-Pena syndrome, Shashi-Pena syndrome
Health Risk
RS1574391468
Conflicting classifications of pathogenicity
Shashi-Pena syndrome, Shashi-Pena syndrome
Health Risk
RS190136878
Conflicting classifications of pathogenicity
Shashi-Pena syndrome, Inborn genetic diseases, ASXL2-related disorder
Health Risk
RS199600413
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201937732
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202092276
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2087896961
Conflicting classifications of pathogenicity
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1261543038 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1287433846 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1304362773 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1354885963 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1366633810 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1392187299 | Health Risk | Conflicting classifications of pathogenicity | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574391468 | Health Risk | Conflicting classifications of pathogenicity | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS190136878 | Health Risk | Conflicting classifications of pathogenicity | Shashi-Pena syndrome, Inborn genetic diseases, ASXL2-related disorder |
| RS199600413 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201937732 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202092276 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2087896961 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2088083821 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2088397098 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369844902 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373235127 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374285356 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS374740875 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377540463 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377609636 | Health Risk | Conflicting classifications of pathogenicity | Shashi-Pena syndrome, Inborn genetic diseases, Shashi-Pena syndrome |
| RS552479532 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS565110158 | Health Risk | Conflicting classifications of pathogenicity | Shashi-Pena syndrome, Intellectual disability, Shashi-Pena syndrome |
| RS572342520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ASXL2-related disorder, Inborn genetic diseases |
| RS750809033 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750996718 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752798191 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753082942 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753358728 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766049052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766996744 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775329935 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775732218 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Shashi-Pena syndrome, Inborn genetic diseases |
| RS776161059 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Shashi-Pena syndrome, Inborn genetic diseases |
| RS780551383 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS938580887 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS953411128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS954846035 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553690979 | Health Risk | Likely pathogenic | — |
| RS1574390972 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2088021814 | Health Risk | Likely pathogenic | — |
| RS2149136105 | Health Risk | Likely pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS2465304804 | Health Risk | Likely pathogenic | — |
| RS2465305772 | Health Risk | Likely pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS2465315449 | Health Risk | Likely pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS2465315580 | Health Risk | Likely pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1553691555 | Health Risk | Pathogenic | — |
| RS1574390728 | Health Risk | Pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574395471 | Health Risk | Pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574395479 | Health Risk | Pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS886041065 | Health Risk | Pathogenic | Shashi-Pena syndrome, Shashi-Pena syndrome |