| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC108281160, MASP1 (F62L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108281160, MASP1 (V46A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108281160, MASP1 (S18L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC108281160, MASP1 (F12S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
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