Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity +1 more | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant | Immunodeficiency 63 with lymphoproliferation and autoimmunity | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 63 with lymphoproliferation and autoimmunity | |
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