| | | | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal recessive 12 | |
| | | Deletion (inframe_indel) | Difficulty walking +5 more | |
| | | Single nucleotide variant (missense variant) | Generalized hypotonia +9 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Difficulty walking +3 more | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Inguinal hernia +12 more | |
| | | Single nucleotide variant | Difficulty walking +12 more | |
| | | Single nucleotide variant (missense variant) | Progressive muscle weakness +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive distal spinal muscular atrophy 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Dysphagia +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Qualitative or quantitative defects of collagen 6 +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Muscle weakness +24 more | |
| | | Single nucleotide variant (missense variant) | FKRP-related condition +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Gout +15 more | |
| | | Indel (intron variant) | Gout +14 more | |