| | LIAS, LOC112939935 +1 more | Duplication | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Duplication (frameshift variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Duplication (frameshift variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (nonsense) | Lipoic acid synthetase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency +1 more | |
| | | Deletion (frameshift variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Deletion (frameshift variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Lipoic acid synthetase deficiency | |
| | | Duplication (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Duplication (frameshift variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Deletion (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |