| | LINC01780, LINC02868 +563 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (5 prime UTR variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sacral defect with anterior meningocele +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sacral defect with anterior meningocele +1 more | |
| | | Duplication (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Keratoconus | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sacral defect with anterior meningocele +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | VANGL1-related disorder | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neural tube defect | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Sacral defect with anterior meningocele +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Sacral defect with anterior meningocele +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +2 more | |
| | | Single nucleotide variant (synonymous variant) | Sacral defect with anterior meningocele +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Sacral defect with anterior meningocele +3 more | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neural tube defect | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sacral defect with anterior meningocele +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Sacral defect with anterior meningocele +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Sacral defect with anterior meningocele +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, susceptibility to +1 more | GUncertain significance; risk factor |
| | | Deletion (nonsense) | Sacral defect with anterior meningocele | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Sacral defect with anterior meningocele +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, susceptibility to | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defect +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Neural tube defect | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neural tube defect +2 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +1 more | |