| | | Single nucleotide variant (missense variant) | Congenital myopathy 23 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 23 | |
| | | Duplication (intron variant) | Congenital myopathy with fiber type disproportion +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myopathy 23 | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 23 | |
| | | Single nucleotide variant (missense variant +1 more) | TPM2-related myopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, type 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 23 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A +2 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, type 1A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Arthrogryposis, distal, type 1A +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | TPM2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 23 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 23 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 23 +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 23 +1 more | |
| | | Microsatellite (inframe_deletion) | Arthrogryposis, distal, type 1A +2 more | |
| | | Duplication (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 23 | |
| | | Microsatellite (inframe_deletion) | Arthrogryposis, distal, type 1A | |
| | | Microsatellite (inframe_deletion) | TPM2-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1A | |