| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01902, LINC01903 +1005 more | Copy number gain | See cases | |
| | LOC126862765, LOC126862766 +596 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062712, LOC130062713 +879 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | SMAD7-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Colorectal cancer, susceptibility to, 3 | |
| | LOC126862741, SMAD7 (T237M +3 more) | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome | |
| | LOC126862741, SMAD7 (P230T +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862741, SMAD7 (S28F) | Single nucleotide variant (missense variant +1 more) | SMAD7-related condition | |
| | | Single nucleotide variant (intron variant) | SMAD7-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | LOC130062470, SMAD7 (K161R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (Q145K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (A144S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (P138L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (G130S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (A88T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SMAD7-related condition | |
| | LOC130062470, SMAD7 (A85V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (A84V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (A82T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SMAD7-related condition | |
| | LOC130062470, SMAD7 (H74N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130062470, SMAD7 (G71C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SMAD7-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SMAD7-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | DLGAP1, DLGAP1-AS2 +174 more | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |