| | | Single nucleotide variant (splice donor variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (splice donor variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Deletion (frameshift variant +1 more) | Multiple gastrointestinal atresias +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (nonsense) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple gastrointestinal atresias +1 more | GPathogenic/Likely pathogenic |
| | LOC126806211, TTC7A (R152C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Gastrointestinal defects and immunodeficiency syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal defects and immunodeficiency syndrome 1 +2 more | |
| | LOC126806211, TTC7A (R154H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple gastrointestinal atresias +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 +2 more | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple gastrointestinal atresias +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple gastrointestinal atresias +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Multiple gastrointestinal atresias +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Multiple gastrointestinal atresias | |
| | | Deletion (nonsense +1 more) | Multiple gastrointestinal atresias | |
| | | Deletion (splice donor variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Insertion (frameshift variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Deletion (frameshift variant) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Gastrointestinal defects and immunodeficiency syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (splice donor variant +1 more) | TTC7A-related disorder | |