| | | Copy number gain | See cases | |
| | LOC129937944, LOC129937945 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | GFM1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | GFM1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | GFM1-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Microsatellite (frameshift variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (nonsense +2 more) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |