| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | |
| | | Single nucleotide variant (intron variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | |
| | | Copy number loss | Smith-Magenis syndrome | |
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