Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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 | |
Click to view in NCBI Gene