| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | LOC129995188, LOC129995189 +863 more | Copy number gain | See cases | |
| | LOC129995377, LOC129995378 +676 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | FAM153A, FAM153B +176 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995388, LOC129995389 +145 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995374, LOC129995375 +136 more | Copy number loss | See cases | |
| | LOC129995362, LOC129995363 +142 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995366, LOC129995367 +113 more | Copy number loss | See cases | |
| | LOC129995370, LOC129995371 +325 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary angioneurotic edema +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary angioneurotic edema +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary angioedema type 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary angioedema type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 3 | |
| | | Single nucleotide variant (missense variant) | FACTOR XII (WASHINGTON D.C.) | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary angioedema type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | F12-Related Disorders +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary angioedema type 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Factor XII deficiency disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Factor XII deficiency disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary angioedema type 3 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Factor XII deficiency disease +4 more | |
| | | Single nucleotide variant (missense variant) | Thrombus | |
| | | Duplication (intron variant) | F12-related condition +1 more | |
| | | Deletion (intron variant) | F12-related condition | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis/osteoporosis, hypophosphatemic +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary angioneurotic edema +5 more | |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary angioedema type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Factor XII deficiency disease +1 more | |
| | | Single nucleotide variant (synonymous variant) | F12-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | FACTOR XII (LOCARNO) | |
| | | Single nucleotide variant (synonymous variant) | Hereditary angioedema type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | 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) | Factor XII deficiency disease +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hereditary angioedema type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +1 more | |
| | | Deletion (splice donor variant) | Hereditary angioedema type 3 | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary angioedema type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |