| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Deletion (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | |
| | | Microsatellite (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | |
| | | Deletion (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | |
| | LOC130067862, SCO2 +1 more (P475S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130067862, SCO2 +1 more (L402M +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC130067862, SCO2 +1 more (G341R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | SCO2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TYMP-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more (A474T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more (V419fs +1 more) | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Duplication (intron variant) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TYMP, LOC130067862 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TYMP, LOC130067862 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | TYMP, LOC130067862 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | TYMP, LOC130067862 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TYMP, LOC130067862 +1 more (E344*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more (L360fs) | Deletion (frameshift variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | TYMP, LOC130067862 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |