| | TMEM201, TMEM240 +806 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +500 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +505 more | Copy number loss | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +557 more | Copy number loss | See cases | |
| | PRAMEF7, PRAMEF8 +563 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +387 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +386 more | Copy number loss | See cases | |
| | LOC129929417, LOC129929418 +309 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929360, LOC129929361 +370 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +304 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +337 more | Copy number loss | See cases | |
| | ANGPTL7, C1orf127 +43 more | Copy number gain | See cases | |
| | LOC112577504, LOC112577505 +316 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +209 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | MASP2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MASP2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | MASP2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | MASP2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | MASP2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency +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) | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |