Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Immunodeficiency 14b, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Deletion (frameshift variant) | Immunodeficiency 14b, autosomal recessive | |
| | | Deletion (frameshift variant) | Immunodeficiency 14b, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency with faciooculoskeletal anomalies +2 more | |
| | LOC126805612, PIK3CD (T436M +1 more) | Single nucleotide variant (missense variant) | PIK3CD-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14b, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 14 +3 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency with faciooculoskeletal anomalies +3 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with faciooculoskeletal anomalies +3 more | |
| | | Single nucleotide variant (synonymous variant) | PIK3CD-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +5 more | |
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