| | LOC126805688, YARS1 (P270L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | LOC126805688, YARS1 (S230F) | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | |
| | | Deletion | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805688, YARS1 (F275L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | LOC126805688, YARS1 (N254fs) | Deletion (frameshift variant) | YARS1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | YARS1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (G285fs) | Deletion (frameshift variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (C250S) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (V260A) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (R237Q) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Duplication (inframe_insertion) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Deletion (splice donor variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (C250Y) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Duplication (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (I232T) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (L268F) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (E274Q) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | A2ML1-AS2, A3GALT2 +2151 more | Copy number gain | Trisomy 12p | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805688, YARS1 (E256G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805688, YARS1 (E256K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Deletion | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Deletion | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease dominant intermediate C | |
| | LOC126805688, YARS1 (N258S) | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |