single nucleotide variant | NM_001042492.3(NF1):c.6643-2A>G | NF1 | Pathogenic | 17 | 29664835 | 29664835 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.3974+1G>A | NF1 | Pathogenic | 17 | 29563040 | 29563040 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.3315-1G>A | NF1 | Pathogenic | 17 | 29559717 | 29559717 | G | A | criteria provided, single submitter | - |
Deletion | NM_001042492.3(NF1):c.3197+2del | NF1 | Likely pathogenic | 17 | 29557945 | 29557945 | GT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.2851-1G>A | NF1 | Pathogenic/Likely pathogenic | 17 | 29556852 | 29556852 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.2850+2T>G | NF1 | Pathogenic/Likely pathogenic | 17 | 29556485 | 29556485 | T | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000267.3(NF1):c.2252delG | NF1 | Pathogenic/Likely pathogenic | 17 | 29554235 | 29554235 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.288+1G>C | NF1 | Pathogenic | 17 | 29486112 | 29486112 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.204+2T>G | NF1 | Pathogenic | 17 | 29483146 | 29483146 | T | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000017.11:g.(?_31325810)_(31374165_?)del | NF1 | Pathogenic | 17 | 29652828 | 29701183 | na | na | criteria provided, single submitter | - |