| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | |
| | | Indel (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | BICD2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Macrocephaly +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2, AD +2 more | GPathogenic/Likely pathogenic |