| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC130009528, LOC130009529 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00327, LINC00362 +21 more | Copy number gain | See cases | |
| | C1QTNF9, C1QTNF9B +62 more | Copy number gain | See cases | |
| | LINC00327, LINC00362 +21 more | Copy number loss | See cases | |
| | LOC132090182, MIPEP +57 more | Deletion | See cases | |
| | C1QTNF9B, LINC00327 +55 more | Copy number gain | See cases | |
| | C1QTNF9, C1QTNF9B +57 more | Copy number gain | See cases | |
| | C1QTNF9, C1QTNF9B +57 more | Copy number gain | See cases | Gconflicting data from submitters |
| | C1QTNF9, C1QTNF9B +57 more | Copy number gain | See cases | |
| | LOC130009386, LOC130009387 +55 more | Deletion | Schizophrenia | |
| | C1QTNF9, C1QTNF9B +55 more | Copy number gain | See cases | |
| | C1QTNF9, C1QTNF9B +55 more | Copy number gain | See cases | |
| | C1QTNF9, C1QTNF9B +55 more | Copy number gain | See cases | |
| | LINC00327, LINC00362 +16 more | Copy number loss | See cases | |
| | LINC00327, LINC00362 +16 more | Copy number loss | See cases | |
| | C1QTNF9, C1QTNF9B +54 more | Copy number loss | See cases | |
| | C1QTNF9, C1QTNF9B +55 more | Copy number gain | See cases | |
| | C1QTNF9, C1QTNF9B +55 more | Copy number loss | See cases | |
| | C1QTNF9B, LINC00327 +47 more | Copy number loss | See cases | |
| | LOC130009367, LOC130009368 +10 more | Duplication | Autosomal recessive limb-girdle muscular dystrophy type 2C | |
| | LOC130009363, LOC130009364 +10 more | Deletion | Spastic paraplegia +1 more | |
| | LOC132090179, SACS +5 more | Deletion | Spastic paraplegia | |
| | LOC130009364, LOC130009365 +10 more | Deletion | Autosomal recessive limb-girdle muscular dystrophy type 2C | |
| | LOC130009364, LOC130009365 +10 more | Duplication | Spastic paraplegia | |
| | LINC00327, LINC00362 +33 more | Copy number loss | See cases | |
| | LINC00327, LOC130009362 +23 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | SACS, SGCG (N287S +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sarcoglycanopathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sarcoglycanopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Recessive +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Microsatellite (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Deletion (3 prime UTR variant) | not provided +1 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | SACS-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |