Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | HYOU1, LOC130006884 (V437I) | Single nucleotide variant (missense variant) | Granulocytopenia with immunoglobulin abnormality +1 more | |
| | | Single nucleotide variant (missense variant) | Granulocytopenia with immunoglobulin abnormality | |
| | | Single nucleotide variant (missense variant) | Granulocytopenia with immunoglobulin abnormality +1 more | |
| | | Single nucleotide variant (intron variant) | Granulocytopenia with immunoglobulin abnormality | |
| | | Single nucleotide variant (synonymous variant) | Granulocytopenia with immunoglobulin abnormality +1 more | |
| | | Single nucleotide variant (intron variant) | Granulocytopenia with immunoglobulin abnormality +1 more | |
| | | Single nucleotide variant (synonymous variant) | Granulocytopenia with immunoglobulin abnormality +1 more | |
| | | Single nucleotide variant (synonymous variant) | Granulocytopenia with immunoglobulin abnormality +2 more | |
| | LOC130006884, HYOU1 (A419P) | Single nucleotide variant (missense variant) | Granulocytopenia with immunoglobulin abnormality | |
| | | Single nucleotide variant (missense variant) | Granulocytopenia with immunoglobulin abnormality | |
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