| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089736, LOC132089737 +313 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | BICD2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Deletion (splice acceptor variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |