| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TMEM139-AS1, TMEM140 +1052 more | Copy number gain | See cases | |
| | MIR5707, MIR595 +1046 more | Copy number gain | See cases | |
| | LOC123956245, LOC123956246 +1025 more | Copy number gain | See cases | |
| | LOC285889, LOC349160 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999467, LOC129999468 +944 more | Copy number loss | See cases | |
| | LOC123956263, LOC126860190 +455 more | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389950, LOC129999513 +707 more | Copy number loss | See cases | |
| | ACTR3C, ARHGEF35 +172 more | Copy number gain | See cases | |
| | LOC129389931, LOC129389932 +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) | not provided +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) | not specified +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 condition | |
| | | Single nucleotide variant (missense variant +2 more) | TPK1-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | TPK1-related condition | |
| | | 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) | not provided +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 | |