| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129931064, LOC129931065 +563 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary spastic paraplegia 47 | |
| | | Duplication | RASopathy | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | Seizure +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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