| | | Copy number gain | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Infantile liver failure syndrome 2 | |
| | | Indel (missense variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Infantile liver failure syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Insertion (intron variant) | Infantile liver failure syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Insertion (intron variant) | Infantile liver failure syndrome 2 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Infantile liver failure syndrome 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Infantile liver failure syndrome 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Infantile liver failure syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant) | Infantile liver failure syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Infantile liver failure syndrome 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | |
| | | Deletion (inframe_deletion +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Infantile liver failure syndrome 2 | |
| | | Duplication (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | |
| | | Deletion (inframe_deletion +1 more) | Infantile liver failure syndrome 2 | |