| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |
| | PPAN, PPAN-P2RY11 +184 more | Copy number loss | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130063545, TIMM29 (A77V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Familial hypercholesterolemia | |
| | | Deletion | Familial hypercholesterolemia | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate B +4 more | |
| | | Copy number gain | not provided | |
| | | Duplication | Familial hypercholesterolemia | |
| | ANGPTL8, C19orf38 +22 more | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
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