| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | LOC130007275, LOC130007276 +97 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Triosephosphate isomerase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Triosephosphate isomerase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Triosephosphate isomerase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Triosephosphate isomerase deficiency | |
| | | Deletion (frameshift variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Triosephosphate isomerase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Triosephosphate isomerase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | TPI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (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 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (synonymous variant) | TPI1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |