| | | Single nucleotide variant (missense variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Duplication (intron variant) | not provided +4 more | |
| | | Deletion (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | LOC130060295, MYH3 (E1469fs) | Duplication (frameshift variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (splice donor variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Freeman-Sheldon syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more | |
| | | Duplication (intron variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 2B1 +6 more | |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Freeman-Sheldon syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | MYH3-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 +3 more | |