| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | BPIFA3, LOC126863015 (S109*) | Single nucleotide variant (nonsense +1 more) | BPIFA3-related condition | |
| | BPIFA3, LOC126863015 (S82T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BPIFA3, LOC126863015 (A53T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | BPIFA3, LOC126863015 (S116L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene