SALL4 Chromosome 20

Spalt like transcription factor 4
76 variants 76 Health Risk

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
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