SALL4 Chromosome 20
Spalt like transcription factor 4
Upload your DNA to see your personal genotypes for variants in SALL4.
What This Gene Does
This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
20q13.2
Ensembl
ENSG00000101115
Associated Conditions (5)
Duane-radial ray syndrome
Inborn genetic diseases
Oculootoradial syndrome
SALL4-related disorder
Familial cancer of breast
Key Variants
RS111502708
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Inborn genetic diseases, Oculootoradial syndrome
Health Risk
RS113920122
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Inborn genetic diseases, SALL4-related disorder
Health Risk
RS138604469
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS138891224
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome, Oculootoradial syndrome
Health Risk
RS139382539
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome
Health Risk
RS142325001
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS142551587
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS142790611
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS143601538
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
RS143818932
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome
Health Risk
RS145275500
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Familial cancer of breast, Inborn genetic diseases
Health Risk
RS146143890
Conflicting classifications of pathogenicity
Duane-radial ray syndrome, Duane-radial ray syndrome
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111502708 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Inborn genetic diseases, Oculootoradial syndrome |
| RS113920122 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Inborn genetic diseases, SALL4-related disorder |
| RS138604469 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS138891224 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome, Oculootoradial syndrome |
| RS139382539 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome |
| RS142325001 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS142551587 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS142790611 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS143601538 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS143818932 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome |
| RS145275500 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Familial cancer of breast, Inborn genetic diseases |
| RS146143890 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS146604877 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Duane-radial ray syndrome, Inborn genetic diseases |
| RS146644204 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Inborn genetic diseases, Duane-radial ray syndrome |
| RS147158259 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Inborn genetic diseases, SALL4-related disorder |
| RS147195029 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome |
| RS147385529 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome |
| RS147732522 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Duane-radial ray syndrome, Oculootoradial syndrome |
| RS149430070 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS150402866 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, SALL4-related disorder, Duane-radial ray syndrome |
| RS199607966 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome |
| RS202087308 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Oculootoradial syndrome, Inborn genetic diseases |
| RS2078027775 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Duane-radial ray syndrome, Inborn genetic diseases |
| RS371144604 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome |
| RS373555761 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome |
| RS374189772 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS747313972 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Oculootoradial syndrome, Duane-radial ray syndrome |
| RS753647133 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS76648342 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, SALL4-related disorder, Inborn genetic diseases |
| RS770440198 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS770743300 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Duane-radial ray syndrome, Inborn genetic diseases |
| RS778170676 | Health Risk | Conflicting classifications of pathogenicity | Duane-radial ray syndrome, Inborn genetic diseases, Duane-radial ray syndrome |
| RS2122962179 | Health Risk | Likely pathogenic | — |
| RS2122966358 | Health Risk | Likely pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2122967143 | Health Risk | Likely pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515708636 | Health Risk | Likely pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS2515714748 | Health Risk | Likely pathogenic | SALL4-related disorder, SALL4-related disorder |
| RS2515716591 | Health Risk | Likely pathogenic | SALL4-related disorder, SALL4-related disorder |
| RS74315428 | Health Risk | Likely pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1057521145 | Health Risk | Pathogenic | — |
| RS1131691536 | Health Risk | Pathogenic | — |
| RS141604488 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1555850609 | Health Risk | Pathogenic | — |
| RS1555850961 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1568864697 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1568865283 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1601166963 | Health Risk | Pathogenic | Oculootoradial syndrome, Oculootoradial syndrome |
| RS1601168015 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1601168967 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |
| RS1601170510 | Health Risk | Pathogenic | Duane-radial ray syndrome, Duane-radial ray syndrome |