| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | 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 | |
| | | Deletion (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense 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 | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | | Duplication (frameshift variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | LOC129388857, LRPPRC (S543G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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 | |
| | LOC129388857, LRPPRC (S536L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 (synonymous 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 (synonymous 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 (synonymous 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) | Seizure +1 more | |
| | LOC129388857, LRPPRC (R541S) | Single nucleotide variant (missense variant) | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC129388857, LRPPRC (Q538*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |