| | HRG, LOC126806897 (F124fs) | Deletion (frameshift variant) | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | |
| | | Single nucleotide variant (missense variant) | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HRG, HRG-AS1
+1 more (Y68H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HRG, HRG-AS1
+1 more (G103R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | HRG, HRG-AS1
+1 more (P91S) | Single nucleotide variant (missense variant) | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | |
| | HRG, HRG-AS1
+1 more (G103E) | Single nucleotide variant (missense variant) | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | |