BCORL1 Chromosome X
BCL6 corepressor like 1
Upload your DNA to see your personal genotypes for variants in BCORL1.
What This Gene Does
The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000085185
Associated Conditions (7)
See cases
Shukla-Vernon syndrome
BCORL1-related disorder
Intellectual disability
Multiple myeloma
Oligoasthenoteratozoospermia
Neurodevelopmental delay
Key Variants
RS1327701948
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS201843717
Conflicting classifications of pathogenicity
Shukla-Vernon syndrome, BCORL1-related disorder, Shukla-Vernon syndrome
Health Risk
RS752320467
Conflicting classifications of pathogenicity
Health Risk
RS1464137864
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1603105985
Likely pathogenic
Shukla-Vernon syndrome, Shukla-Vernon syndrome
Health Risk
RS1603113792
Likely pathogenic
Multiple myeloma, Multiple myeloma
Health Risk
RS2522663621
Likely pathogenic
Shukla-Vernon syndrome, Shukla-Vernon syndrome
Health Risk
RS199973665
Pathogenic
Oligoasthenoteratozoospermia, Oligoasthenoteratozoospermia
Health Risk
RS2522832906
Pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS750640150
Pathogenic
Oligoasthenoteratozoospermia, Oligoasthenoteratozoospermia
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1327701948 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS201843717 | Health Risk | Conflicting classifications of pathogenicity | Shukla-Vernon syndrome, BCORL1-related disorder, Shukla-Vernon syndrome |
| RS752320467 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1464137864 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1603105985 | Health Risk | Likely pathogenic | Shukla-Vernon syndrome, Shukla-Vernon syndrome |
| RS1603113792 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS2522663621 | Health Risk | Likely pathogenic | Shukla-Vernon syndrome, Shukla-Vernon syndrome |
| RS199973665 | Health Risk | Pathogenic | Oligoasthenoteratozoospermia, Oligoasthenoteratozoospermia |
| RS2522832906 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS750640150 | Health Risk | Pathogenic | Oligoasthenoteratozoospermia, Oligoasthenoteratozoospermia |