| | | Duplication (splice acceptor variant) | not provided +1 more | |
| | | Duplication (inframe_insertion) | Progressive myositis ossificans | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (intron variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Progressive myositis ossificans | |
| | | Single nucleotide variant (intron variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (intron variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Progressive myositis ossificans | |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Duplication (splice donor variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Deletion (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |