| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | KNG1-related condition | |
| | | Single nucleotide variant (synonymous variant) | KNG1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | KNG1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | KNG1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | KNG1-related condition | |
| | | Single nucleotide variant (synonymous variant) | KNG1-related condition | |
| | | Single nucleotide variant (synonymous variant) | KNG1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | KNG1-related condition | |
| | | Single nucleotide variant (missense variant) | KNG1-related condition | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | High molecular weight kininogen deficiency | |
| | | Single nucleotide variant (splice donor variant) | High molecular weight kininogen deficiency | |
| | | Single nucleotide variant (splice donor variant) | High molecular weight kininogen deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | KNG1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | 3MC syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense) | High molecular weight kininogen deficiency | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Copy number loss | Short stature | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Angioedema, hereditary, 6 | |
| | | Single nucleotide variant (missense variant) | Angioedema, hereditary, 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | 3MC syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema with normal C1Inh | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary angioedema with normal C1Inh | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | 3MC syndrome 1 | |
| | | Copy number loss | Cognitive impairment +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (nonsense +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant +1 more) | High molecular weight kininogen deficiency | |
| | | Duplication | Normal pregnancy | |
| | ABCC5, ABCC5-AS1 +1064 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938004, LOC129938005 +399 more | Copy number loss | See cases | |
| | LOC129937828, LOC129937829 +1244 more | Copy number gain | See cases | |
| | LINC00578, LINC00880 +1317 more | Copy number gain | See cases | |
| | ADIPOQ, ADIPOQ-AS1 +131 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +866 more | Copy number gain | See cases | |