| | | Duplication (inframe_insertion) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal recessive 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |