| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Megalencephaly-polydactyly syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Feingold syndrome type 1 | |
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