| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal recessive 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 42 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 42 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Microsatellite (intron variant) | Intellectual disability, autosomal recessive 42 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal recessive 42 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal recessive 42 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |