Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | TTN, TTN-AS1 (V27228M +5 more) | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +17 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene