| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Deletion (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Microsatellite (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Peters plus syndrome | |
| | | Deletion (inframe_deletion) | Peters plus syndrome | |
| | | Deletion | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Deletion (inframe_deletion) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (nonsense) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (splice donor variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Deletion (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome +1 more | |
| | | Deletion (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Duplication | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | B3GLCT, LOC130009514 (C6Y) | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | B3GLCT, LOC130009514 (L10F) | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (nonsense) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (nonsense) | B3GLCT-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Peters plus syndrome | |
| | | Single nucleotide variant (nonsense) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome +1 more | |
| | | Duplication (intron variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome +1 more | |
| | | Deletion (intron variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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 (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | |
| | | Single nucleotide variant (missense variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Peters plus syndrome | |
| | | Single nucleotide variant (intron variant) | Peters plus syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peters plus syndrome | |