| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (nonsense +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Deletion | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (nonsense +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Microsatellite | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Duplication | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (splice donor variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (nonsense) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (nonsense) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (splice acceptor variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion (frameshift variant +1 more) | Aminoglycoside-induced deafness +1 more | |
| | | Single nucleotide variant (splice donor variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Aminoglycoside-induced deafness +2 more | |
| | | Deletion (splice acceptor variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Indel (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Aminoglycoside-induced deafness +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Aminoglycoside-induced deafness +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Aminoglycoside-induced deafness +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (intron variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Aminoglycoside-induced deafness +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | Aminoglycoside-induced deafness +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | |
| | | Single nucleotide variant (missense variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion +2 more) | Aminoglycoside-induced deafness +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | GConflicting classifications of pathogenicity |