| | LOC130059960, LOC130059961 +224 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C17orf107, C17orf114 +498 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | SERPINF2, SLC43A2 +53 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Osteogenesis Imperfecta, Recessive | |
| | | Single nucleotide variant | Osteogenesis Imperfecta, Recessive +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Osteogenesis imperfecta type 6 | |
| | | Duplication (splice donor variant) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 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) | Osteogenesis imperfecta type 6 +2 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 (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Osteogenesis imperfecta type 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SERPINF1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Microsatellite (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC130059891, SERPINF1 (D34N) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SERPINF1, LOC130059891 (A38V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC130059891, SERPINF1 (V40fs) | Deletion (frameshift variant +1 more) | Osteogenesis imperfecta type 6 | |
| | LOC130059891, SERPINF1 (P45L) | Single nucleotide variant (missense variant +1 more) | Osteogenesis Imperfecta, Recessive | |
| | | 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 provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | 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, LOC130059892 +1 more (V58fs) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130059891, SERPINF1 (L65M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | SERPINF1, LOC130059891 (L65P) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | LOC130059891, SERPINF1 (V68L) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | LOC130059891, SERPINF1 (R69*) | Single nucleotide variant (nonsense +1 more) | Abnormality of the skeletal system | |
| | LOC130059891, SERPINF1 (R69Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 (V78M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130059892, SERPINF1 (L79P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130059892, SERPINF1 (S81C) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 +4 more | GConflicting classifications of pathogenicity |