| | | Indel (frameshift 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 (splice donor variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (splice acceptor 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) | 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 (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR 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) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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) | 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) | MASP2-related disorder +1 more | |
| | | 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) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | MASP2-related disorder +2 more | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic Lateral Sclerosis, Dominant +2 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 (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency +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 (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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense 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 (synonymous variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | 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 (intron 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 (synonymous variant) | not provided +1 more | |
| | | 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) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency +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 (missense 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 (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amyotrophic lateral sclerosis type 10 +3 more | |
| | | Insertion (3 prime UTR variant) | Immunodeficiency due to MASP-2 deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | MASP2-related disorder +3 more | GConflicting classifications of pathogenicity |