| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861917, LOC126861918 +225 more | Copy number loss | See cases | |
| | ARHGAP5-AS1, DTD2 +35 more | Deletion | Mitochondrial complex I deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | AP4S1, LOC130055445 +1 more (R78L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (L69V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (Q61R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (P60R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (P44S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (G36R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (G33E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (G29S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +1 more | |
| | | Duplication (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia 52, autosomal recessive | |
| | | Duplication (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Microsatellite (splice donor variant) | Neurodevelopmental disorder +5 more | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia 52, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia 52, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (splice acceptor variant) | Spastic paraplegia 52, autosomal recessive | |
| | | Microsatellite (frameshift variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | AP4S1-related disorder | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia 52, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (splice acceptor variant) | Spastic paraplegia | |
| | | Deletion | Spastic paraplegia 52, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Insertion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia 52, autosomal recessive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (splice donor variant) | Spastic paraplegia | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |