| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | MCFD2, TTC7A (D27Y +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | MCFD2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +3 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple gastrointestinal atresias | |
| | | Deletion (frameshift variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +3 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | MCFD2, TTC7A (L11P +1 more) | Single nucleotide variant (missense variant +2 more) | TTC7A-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MCFD2, TTC7A (S6G +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +2 more) | Gastrointestinal defect and immunodeficiency syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Multiple gastrointestinal atresias | |
| | | Duplication | Multiple gastrointestinal atresias | |
| | | Deletion | Multiple gastrointestinal atresias | |
| | | Duplication | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (F30L +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +3 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (H25Y +1 more) | Single nucleotide variant (missense variant +3 more) | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (T38R +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (E18Q +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias +1 more | |
| | MCFD2, TTC7A (E16K +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | LOC129933677, MCFD2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC129933677, MCFD2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC129933679, LOC129933680 +19 more | Duplication | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (synonymous variant +3 more) | Multiple gastrointestinal atresias | |
| | | Deletion | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (R34Q +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +3 more) | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (R21G +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | MCFD2, TTC7A (R21C +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | MCFD2, TTC7A (L27V +1 more) | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Duplication (nonsense +2 more) | Severe combined immunodeficiency disease | |
| | | Single nucleotide variant (missense variant) | Abnormal bleeding +1 more | |
| | TTC7A, MCFD2 (W17fs +1 more) | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple gastrointestinal atresias | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Factor 5 and Factor VIII, combined deficiency of, 2 | |