| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129998966, LOC129998967 +309 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Transcription level of plasminogen activator inhibitor 1 | |
| | | Deletion | Abnormal bleeding | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | SERPINE1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital plasminogen activator inhibitor type 1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hemorrhage | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Thrombus | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital plasminogen activator inhibitor type 1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SERPINE1-related disorder | |
| | | Microsatellite (frameshift variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Microsatellite (frameshift variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital plasminogen activator inhibitor type 1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Gastrointestinal hemorrhage +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Duplication (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital plasminogen activator inhibitor type 1 deficiency | |