| | LOC130002710, LOC130002711 +43 more | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Deletion | Developmental and epileptic encephalopathy, 31A +1 more | |
| | SH3GLB2, SLC25A25 +70 more | Duplication | Dystonic disorder | |
| | | Single nucleotide variant (stop lost +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | COQ4-related disorder | |
| | COQ4, LOC130002704 (T44fs) | Microsatellite (frameshift variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (nonsense) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic ataxia 10, autosomal recessive | |
| | | Duplication (nonsense) | Spastic ataxia 10, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic ataxia 10, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic ataxia 10, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic ataxia 10, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental disorder | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (splice donor variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (intron variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (synonymous variant) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |