| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | |
| | LOC129933722, PPP1R21 (S3L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | |
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