| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC130009528, LOC130009529 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | 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 | |
| | LINC00398, LINC00426 +50 more | Copy number loss | Diaphragmatic hernia | |
| | | 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 loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Peters plus syndrome | |
| | B3GLCT, LOC130009514 (C6Y) | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Deletion (inframe_deletion) | Peters plus syndrome | |
| | B3GLCT, LOC130009514 (L10F) | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | B3GLCT, LOC130009514 (A11E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | B3GLCT, LOC130009514 (L19P) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | B3GLCT, LOC130009514 (C21G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Duplication (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Peters plus syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |