| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with or without dysmorphic facies and autism | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal dominant 75 +1 more | |
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