| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Multiple congenital anomalies/dysmorphic syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 50 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Deletion (splice donor variant) | Hereditary spastic paraplegia 50 | |
| | | Deletion (frameshift variant) | Abnormality of the nervous system | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | AP4M1-related disorder | |
| | | Deletion (splice donor variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (frameshift variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Deletion (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |