| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862741, SMAD7 (S28F) | Single nucleotide variant (missense variant +1 more) | SMAD7-related disorder | |
| | LOC126862741, SMAD7 (P230T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862741, SMAD7 (T237M +3 more) | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | LOC125371434, LOC125371435 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene