| | | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937605, LOC129937606 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937630, LOC129937631 +320 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | EPHB1, LOC112903838 +20 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937632, LOC129937633 +11 more | Copy number loss | Intellectual disability, autosomal dominant 47 | |
| | IL20RB, IL20RB-AS1 +26 more | Copy number loss | Intellectual disability, autosomal dominant 47 | |
| | LOC112903838, LOC123038190 +7 more | Copy number gain | See cases | |
| | | Deletion | Propionic acidemia | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Propionic acidemia | |
| | | Single nucleotide variant | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Propionic acidemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Propionic acidemia | |
| | | Deletion (frameshift variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion | Propionic acidemia | |
| | | Duplication (inframe_insertion +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant +1 more) | Propionic acidemia | |
| | | Indel (missense variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant +1 more) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Propionic acidemia +1 more | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Deletion (inframe_deletion) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (nonsense) | Propionic acidemia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Deletion (frameshift variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia +1 more | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Duplication (frameshift variant) | Propionic acidemia | |
| | | Single nucleotide variant (synonymous variant) | Propionic acidemia | |
| | | Indel (splice donor variant) | Propionic acidemia | |