| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 10 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency due to MASP-2 deficiency +1 more | |
| | | Indel (frameshift variant) | Immunodeficiency due to MASP-2 deficiency | |
Click to view in NCBI Gene