| | | Copy number gain | See cases | |
| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ARL13B, LOC123002313 +4 more | Copy number gain | See cases | |
| | ARL13B, LOC123002313 +4 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Deletion (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Deletion (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | ARL13B, LOC123002313 +4 more | Deletion | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Insertion | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | PROS1-related disorder | |
| | | Single nucleotide variant (stop lost) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Inversion (missense variant) | PROS1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive +3 more | |
| | | Single nucleotide variant (nonsense) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Protein S deficiency disease | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Duplication (frameshift variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive +1 more | |
| | | Deletion (frameshift variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Protein S deficiency disease | |
| | | Single nucleotide variant (missense variant) | PROS1-related disorder | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Protein S deficiency disease | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (splice acceptor variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (splice acceptor variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Thrombophilia due to protein S deficiency, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (splice donor variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal dominant +1 more | |
| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to protein S deficiency, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Thrombophilia due to protein S deficiency, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | PROS1-related disorder +2 more | GConflicting classifications of pathogenicity |