Deletion | NM_001042492.3(NF1):c.4020del (p.Gln1341fs) | NF1 | Pathogenic | 17 | 29576046 | 29576046 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.4110+1G>T | NF1 | Pathogenic/Likely pathogenic | 17 | 29576138 | 29576138 | G | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001042492.3(NF1):c.4703dup (p.Phe1569fs) | NF1 | Pathogenic | 17 | 29588851 | 29588852 | C | CA | criteria provided, single submitter | - |
Deletion | NM_001042492.3(NF1):c.4749del (p.Glu1583fs) | NF1 | Pathogenic | 17 | 29592270 | 29592270 | GA | G | criteria provided, single submitter | - |
Deletion | NM_001042492.3(NF1):c.5461del (p.Val1821fs) | NF1 | Pathogenic | 17 | 29654709 | 29654709 | TG | T | criteria provided, single submitter | - |
Deletion | NM_001042492.3(NF1):c.5535del (p.Arg1846fs) | NF1 | Pathogenic | 17 | 29654782 | 29654782 | AT | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu) | NF1 | Pathogenic | 17 | 29654788 | 29654788 | C | T | criteria provided, single submitter | - |
Deletion | NM_001042492.3(NF1):c.5723_5742del (p.Ile1908fs) | NF1 | Pathogenic | 17 | 29657426 | 29657445 | TATTGTCTCTATTAGTAAGAC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter) | NF1 | Pathogenic | 17 | 29662047 | 29662047 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001042492.3(NF1):c.6722dup (p.Asn2241fs) | NF1 | Pathogenic | 17 | 29665058 | 29665059 | T | TA | criteria provided, single submitter | - |