| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | McKusick-Kaufman syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | McKusick-Kaufman syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | MKKS-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided | |
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