| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 47 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 47 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 47 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal recessive 47 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 47 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 47 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 47 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | FMN2, LOC126806069 (L1379I +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 47 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 47 | |