Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | LOC123493235, TLL1 (R329*) | Single nucleotide variant (nonsense) | Atrial septal defect 6 | |
| | LOC126807212, TLL1 (K491R) | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | LOC126807212, TLL1 (R467C) | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | TLL1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (nonsense) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | LOC126807212, TLL1 (Q472*) | Single nucleotide variant (nonsense) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (splice acceptor variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 6 | |
Click to view in NCBI Gene