Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency, developmental delay, and hypohomocysteinemia | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, developmental delay, and hypohomocysteinemia +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, developmental delay, and hypohomocysteinemia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Immunodeficiency, developmental delay, and hypohomocysteinemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, developmental delay, and hypohomocysteinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency, developmental delay, and hypohomocysteinemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency, developmental delay, and hypohomocysteinemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Neoplasm of uterine cervix +6 more | GPathogenic/Likely pathogenic |
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