Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Hepatic fibrosis +2 more | |
| | | Deletion | Ectodermal dysplasia and immunodeficiency 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Neutropenia +3 more | |
| | | Deletion | Neurodevelopmental delay +7 more | |
| | | Duplication (frameshift variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Anemia +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Shwachman-Diamond syndrome 1 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Glucose-6-phosphate transport defect +1 more | GConflicting classifications of pathogenicity |
| | CARD11, CARD11-AS1 (G123S) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Splenomegaly +1 more | |
| | INSL6, JAK2 (V617F +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Shwachman syndrome +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene