| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | LOC130059892, SERPINF1 (T87M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130059892, SERPINF1 (S84R) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | LOC130059892, SERPINF1 (S93P) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130059892, SERPINF1 (V78M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | SERPINF1, LOC130059891 (L65P) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | LOC130059892, SERPINF1 (L94fs) | Microsatellite (frameshift variant +1 more) | not provided | |
| | LOC130059892, SERPINF1 (S93W) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130059891, SERPINF1 (R69Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130059892, SERPINF1 (S93L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130059891, SERPINF1 (D34N) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC130059891, SERPINF1 (L65M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | SERPINF1, LOC130059891 (A38V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC130059892, SERPINF1 (L79P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | SERPINF1, LOC130059892 (S93*) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_insertion +1 more) | Osteogenesis imperfecta +1 more | |
| | LOC130059891, SERPINF1 (R69*) | Single nucleotide variant (nonsense +1 more) | Abnormality of the skeletal system | |
| | LOC130059891, SERPINF1 (A56G) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130059891, SERPINF1 (V51M) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Duplication (intron variant) | not provided | |
| | LOC130059892, SERPINF1 (A86V) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | LOC130059891, SERPINF1 (P45L) | Single nucleotide variant (missense variant +1 more) | Osteogenesis Imperfecta, Recessive | |
| | LOC130059891, SERPINF1 (V68L) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | LOC130059892, SERPINF1 (S81C) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 +4 more | GConflicting classifications of pathogenicity |
| | LOC130059891, SERPINF1 (V40fs) | Deletion (frameshift variant +1 more) | Osteogenesis imperfecta type 6 | |