| | | Single nucleotide variant (missense variant) | Pierpont syndrome +1 more | GPathogenic/Likely pathogenic |
| | TBL1XR1-AS1, LOC126806878 +1 more (D370N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | LOC126806878, TBL1XR1 +1 more (S279F +1 more) | Single nucleotide variant (missense variant) | Pierpont syndrome | |
| | LOC126806878, TBL1XR1 +1 more | Single nucleotide variant (splice donor variant) | Pierpont syndrome | |
| | | Single nucleotide variant (missense variant) | Usher syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant | Hemophilia | |
| | | Single nucleotide variant (missense variant) | Morquio syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Factor V deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (splice donor variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (intron variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (intron variant) | Hereditary factor IX deficiency disease +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +1 more) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease | |
| | | Deletion (splice acceptor variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Thrombophilia, X-linked, due to factor 9 defect +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor IX deficiency disease +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Hereditary factor VIII deficiency disease | |
| | | Deletion | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (nonsense) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (nonsense) | Hereditary factor VIII deficiency disease | |
| | | Deletion (frameshift variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary factor VIII deficiency disease | |
| | | Duplication (frameshift variant) | Hereditary factor VIII deficiency disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor IX deficiency disease +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of coagulation +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (splice donor variant) | Hereditary factor VIII deficiency disease | |
| | | Microsatellite (frameshift variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (nonsense) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Deletion (frameshift variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (nonsense) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Deletion (frameshift variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary factor VIII deficiency disease +1 more | |
| | | Deletion (frameshift variant) | Hereditary factor VIII deficiency disease | |