| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (intron variant) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Luscan-Lumish syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | SETD2-related disorder +1 more | GConflicting classifications of pathogenicity |
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