| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | SETD2-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 70 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome | |
| | LOC129936665, SETD2 (P23R) | Single nucleotide variant (5 prime UTR variant +2 more) | Luscan-Lumish syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Luscan-Lumish syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
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