Deletion | NC_000017.11:g.(?_31169871)_(31343155_?)del | NF1 | Pathogenic | 17 | 29496889 | 29670173 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_31334559)_(31359035_?)del | NF1 | Pathogenic | 17 | 29661577 | 29686053 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29422385 | 29422385 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001042492.3(NF1):c.882_885del (p.Met294fs) | NF1 | Pathogenic | 17 | 29509675 | 29509678 | CATGA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.1185G>A (p.Lys395=) | NF1 | Likely pathogenic | 17 | 29528177 | 29528177 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter) | NF1 | Pathogenic | 17 | 29528481 | 29528481 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001042492.3(NF1):c.1331del (p.Gly444fs) | NF1 | Pathogenic | 17 | 29533327 | 29533327 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.1393-1G>A | NF1 | Pathogenic | 17 | 29541468 | 29541468 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter) | NF1 | Pathogenic | 17 | 29546098 | 29546098 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001042492.3(NF1):c.1815del (p.Cys606fs) | NF1 | Pathogenic | 17 | 29550555 | 29550555 | TC | T | criteria provided, single submitter | - |