| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | MCFD2, TTC7A (L11P +1 more) | Single nucleotide variant (missense variant +2 more) | TTC7A-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | TTC7A-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant +1 more) | TTC7A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TTC7A-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Multiple gastrointestinal atresias +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TTC7A-related disorder +1 more | |
| | LOC126806211, TTC7A (T164A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TTC7A-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple gastrointestinal atresias +1 more | |
| | | Microsatellite (splice donor variant +1 more) | TTC7A-related disorder | |
| | | Single nucleotide variant (intron variant) | TTC7A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | TTC7A-related disorder | |
| | | Single nucleotide variant (missense variant) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (synonymous variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | TTC7A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (synonymous variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (intron variant) | TTC7A-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Multiple gastrointestinal atresias +1 more | |