| | | Indel (nonsense) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Bone marrow failure syndrome 3 +1 more | |
| | | Indel (frameshift variant) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Bone marrow failure syndrome 3 +3 more | |
| | | Deletion (frameshift variant) | Shwachman-Diamond syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Bone marrow failure syndrome 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 3 | |
| | | Duplication (frameshift variant) | Bone marrow failure syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 3 | |
| | | Deletion (frameshift variant) | Bone marrow failure syndrome 3 | |
| | | Deletion (frameshift variant) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (splice donor variant) | Bone marrow failure syndrome 3 | |
| | | Single nucleotide variant (splice donor variant) | Shwachman-Diamond syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bone marrow failure syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Bone marrow failure syndrome 3 +1 more | |
| | DNAJC21, LOC129993792 (P32A) | Single nucleotide variant (missense variant) | Bone marrow failure syndrome 3 +1 more | |