| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PROSER2-AS1, PRPF18 +680 more | Copy number loss | See cases | |
| | LOC126860819, LOC126860820 +680 more | Copy number gain | See cases | |
| | ACBD7, ACBD7-DCLRE1CP1 +837 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACBD7, ACBD7-DCLRE1CP1 +388 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860874, LOC129390147 +1 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | LOC101928834, LOC124403918 +3 more | Deletion | Failure to thrive in infancy +1 more | |
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