| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | 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 gain | Familial clubfoot due to 17q23.1q23.2 microduplication | |
| | | Duplication | Familial aplasia of the vermis +1 more | |
| | | Copy number loss | not provided | |
| | | Deletion | Megacolon | |
| | | 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 loss | not provided | |
| | | Copy number loss | See cases | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | 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 | |
| | APPBP2, APPBP2-DT +49 more | Copy number loss | See cases | |
| | APPBP2, APPBP2-DT +61 more | Copy number loss | See cases | |
| | APPBP2, APPBP2-DT +56 more | Copy number loss | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |
Click to view in NCBI Gene