| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126806176, LOC126806177 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933242, LOC129933243 +1631 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129934199, LOC129934200 +2457 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129933291, LOC129933292 +142 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | Ritscher-Schinzel syndrome 4 | |
| | | Copy number gain | See cases | |
| | | 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 | |
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