| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992145, LOC129992146 +1209 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LIAS, LOC112939935 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LIAS, LOC112939935 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | LIAS, LOC112939935 +1 more | Duplication | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | LIAS-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | 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) | LIAS-related disorder +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) | Inborn genetic diseases +1 more | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | 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) | not provided +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) | Inborn genetic diseases +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 (nonsense) | not provided | |
| | | 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 +1 more | |
| | | 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 | |