| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | Deficiency of alpha-mannosidase +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ANGPTL8, C19orf38 +22 more | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130063636, LOC130063637 +434 more | Copy number loss | See cases | |
| | LOC130064390, LOC130064391 +2135 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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