single nucleotide variant | NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln) | NF1 | Likely pathogenic | 17 | 29585506 | 29585506 | A | C | criteria provided, single submitter | ClinGen:CA219550,UniProtKB:P21359#VAR_010997,UniProtKB/Swiss-Prot:VAR_010997 |
single nucleotide variant | NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) | NF1 | Likely pathogenic | 17 | 29560110 | 29560110 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA219526,UniProtKB:P21359#VAR_032471,UniProtKB/Swiss-Prot:VAR_032471 |
single nucleotide variant | NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) | NF1 | Likely pathogenic | 17 | 29556905 | 29556905 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA219498,UniProtKB:P21359#VAR_021751,UniProtKB/Swiss-Prot:VAR_021751 |
single nucleotide variant | NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) | NF1 | Likely pathogenic | 17 | 29550473 | 29550473 | T | G | criteria provided, single submitter | ClinGen:CA219405,UniProtKB:P21359#VAR_021736,UniProtKB/Swiss-Prot:VAR_021736 |
single nucleotide variant | NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) | NF1 | Likely pathogenic | 17 | 29562648 | 29562648 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA251473,UniProtKB:P21359#VAR_032472,OMIM:613113.0041 |