| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKDD1A, LOC125078103 +34 more | Copy number loss | See cases | |
| | ANKDD1A, LOC130057306 +3 more | Copy number loss | See cases | |
| | | Single nucleotide variant (no sequence alteration) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Single nucleotide variant (no sequence alteration) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Variation (no sequence alteration) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | SPG21-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Mast syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Mast syndrome | |
| | | Single nucleotide variant (intron variant) | Mast syndrome | |
| | | Single nucleotide variant (intron variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (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 (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Deletion (nonsense) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (intron variant) | Mast syndrome | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (splice donor variant) | Mast syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Deletion (frameshift variant) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Mast syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mast syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Mast syndrome | |
| | | 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 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | |
| | | Single nucleotide variant (synonymous variant) | Mast syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Mast syndrome | |