| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132088765, LOC132088766 +147 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACVR1C, LOC129934963 +61 more | Deletion | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | | Deletion (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 | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive myositis ossificans | |
| | | Deletion (frameshift variant) | not provided | |
| | | 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) | not provided +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 | |
| | | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (splice acceptor variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ACVR1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ACVR1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Progressive myositis ossificans +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
| | | Single nucleotide variant (synonymous variant) | not provided | |