| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | LOC130009480, LOC130009481 +488 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009372, LOC130009373 +181 more | Copy number loss | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | LOC130009376, LOC130009377 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC130009548, LOC130009549 +2024 more | 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 | |
| | LOC130009367, LOC130009368 +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) | Sarcoglycanopathy +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 condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |