| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Microsatellite (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Insertion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Microsatellite (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (splice acceptor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (intron variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Insertion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Insertion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Indel (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Insertion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (nonsense) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |