| | | Single nucleotide variant (nonsense) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Single nucleotide variant (missense variant) | ARPC1B-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease +1 more | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease +1 more | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease +1 more | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Duplication (frameshift variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Single nucleotide variant (splice donor variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Deletion (frameshift variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Indel (frameshift variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Deletion (frameshift variant) | Combined immunodeficiency +1 more | |
| | LOC129998866, LOC129998867
+2 more | Deletion (genic upstream transcript variant) | Combined immunodeficiency | |
| | | Deletion (frameshift variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease +1 more | |
| | | Single nucleotide variant (splice donor variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease +1 more | |
| | | Single nucleotide variant (missense variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |
| | | Duplication (frameshift variant) | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | |