VANGL1 Chromosome 1
VANGL planar cell polarity protein 1
Upload your DNA to see your personal genotypes for variants in VANGL1.
What This Gene Does
This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Associated Conditions (6)
Neural tube defect
Sacral defect with anterior meningocele
Inborn genetic diseases
VANGL1-related disorder
Neural tube defects
susceptibility to
Key Variants
RS115376031
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect
Health Risk
RS117337677
Conflicting classifications of pathogenicity
Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele
Health Risk
RS140485834
Conflicting classifications of pathogenicity
Sacral defect with anterior meningocele, Neural tube defect, Inborn genetic diseases
Health Risk
RS140931431
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect
Health Risk
RS142123586
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect
Health Risk
RS142594314
Conflicting classifications of pathogenicity
Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele
Health Risk
RS143196463
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, VANGL1-related disorder
Health Risk
RS145137292
Conflicting classifications of pathogenicity
Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele
Health Risk
RS145309218
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect
Health Risk
RS147220426
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect
Health Risk
RS148126079
Conflicting classifications of pathogenicity
Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele
Health Risk
RS148944333
Conflicting classifications of pathogenicity
Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115376031 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS117337677 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS140485834 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Inborn genetic diseases |
| RS140931431 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS142123586 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS142594314 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS143196463 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, VANGL1-related disorder |
| RS145137292 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS145309218 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS147220426 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS148126079 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS148944333 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS150705915 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS181583261 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS184708484 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS186509771 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS187286147 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS192325588 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS201840785 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS370321176 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS536289395 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS543050989 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS544552151 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS555833838 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS561312836 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Inborn genetic diseases |
| RS562835629 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Sacral defect with anterior meningocele |
| RS575493003 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS577473121 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS61734296 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, VANGL1-related disorder |
| RS781010619 | Health Risk | Conflicting classifications of pathogenicity | Sacral defect with anterior meningocele, Neural tube defect, Inborn genetic diseases |
| RS78535164 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defect, Sacral defect with anterior meningocele, Neural tube defect |
| RS121918219 | Health Risk | Likely pathogenic | Neural tube defects, susceptibility to, Neural tube defects |
| RS2101027831 | Health Risk | Pathogenic | Sacral defect with anterior meningocele, Sacral defect with anterior meningocele |
| RS121918220 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |