| | LOC126805688, YARS1 (S230F) | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C +1 more | |
| | | Microsatellite (inframe_deletion) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more | |
| | LOC126805688, YARS1 (F269S) | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more | |