| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | C2orf42, LOC129934040 (P176L) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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