| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACSL6, ACSL6-AS1 +263 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390180, LOC129390181 +1008 more | Copy number gain | See cases | |
| | LOC129390190, LOC129390191 +610 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004125, LOC130004126 +580 more | Copy number gain | See cases | |
| | ADAMTS14, LINC02622 +26 more | Copy number gain | See cases | |
| | | Microsatellite (3 prime UTR variant +1 more) | BH4-Deficient Hyperphenylalaninemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (stop lost +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Microsatellite (inframe_deletion) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Duplication (nonsense) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Microsatellite (frameshift variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |