| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999721, LOC129999722 +707 more | Copy number loss | See cases | |
| | ACTR3C, ARHGEF35 +172 more | Copy number gain | See cases | |
| | LOC129999681, LOC129999682 +573 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Microsatellite (inframe_insertion +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | TPK1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | TPK1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | TPK1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| | | Single nucleotide variant (intron variant) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |