| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | |
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