| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 28 +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 28 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene