| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Duplication | Congenital contractural arachnodactyly | |
| | | Deletion | Congenital contractural arachnodactyly | |
| | | Deletion | Congenital contractural arachnodactyly | |
| | | Deletion | Congenital contractural arachnodactyly | |
| | | Deletion | Congenital contractural arachnodactyly | |
| | | Deletion | Congenital contractural arachnodactyly | |
| | | Deletion | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | FBN2, LOC126807501 (W1007R) | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (nonsense) | Congenital contractural arachnodactyly | |
| | FBN2, LOC126807501 (V1064I) | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | FBN2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | FBN2, LOC126807501 (K1072R) | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Microsatellite (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Deletion (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly | |