| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Holoprosencephaly 5 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Deletion | Holoprosencephaly 5 | |
| | | Duplication | Propionic acidemia | |
| | | Duplication | not provided | |
| | | Deletion | Propionic acidemia | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | BIVM-ERCC5, CCDC168 +40 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CCDC169-SOHLH2, CCDC70 +332 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Complete trisomy 13 syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Propionic acidemia | |
| | | Deletion | Propionic acidemia | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Deletion | Lobar holoprosencephaly | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Deletion | Distal monosomy 13q | |
| | | Deletion | Holoprosencephaly 5 | |
| | | Copy number gain | See cases | |
| | | Duplication | Propionic acidemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Deletion | Propionic acidemia | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Propionic acidemia | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Propionic acidemia | |
| | | Duplication (3 prime UTR variant +1 more) | Propionic acidemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Propionic acidemia | |
| | | Deletion (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC132090867, MBNL2 +663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |