| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 3-methylcrotonyl-CoA carboxylase 2 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | ARID1B-related BAFopathy +2 more | |
| | | Single nucleotide variant (splice donor variant) | Autism spectrum disorder | |
| | | Deletion (frameshift variant) | Mutilating keratoderma +10 more | |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant +1 more) | Isolated focal cortical dysplasia type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Tuberous sclerosis syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Intellectual developmental disorder with autistic features and language delay, with or without seizures | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
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