single nucleotide variant | NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) | NF1 | Pathogenic | 17 | 29541542 | 29541542 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA325499,UniProtKB:P21359#VAR_032465,OMIM:613113.0023 |
single nucleotide variant | NM_001042492.3(NF1):c.1260+1G>A | NF1 | Pathogenic | 17 | 29528504 | 29528504 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA251471,OMIM:613113.0025 |
single nucleotide variant | NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) | NF1 | Pathogenic | 17 | 29576048 | 29576048 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA325503,OMIM:613113.0026 |
single nucleotide variant | NM_001042492.3(NF1):c.6007-5A>G | NF1 | Pathogenic | 17 | 29663346 | 29663346 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA212551,OMIM:613113.0029 |
single nucleotide variant | NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) | NF1 | Pathogenic | 17 | 29562641 | 29562641 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA165261,OMIM:613113.0031 |
Deletion | NM_001042492.3(NF1):c.2970_2972del (p.Met992del) | NF1 | Pathogenic/Likely pathogenic | 17 | 29556972 | 29556974 | CAAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA114186,OMIM:613113.0033 |
Deletion | NM_001042492.3(NF1):c.3784del (p.Ser1262fs) | NF1 | Pathogenic | 17 | 29562701 | 29562701 | GT | G | criteria provided, multiple submitters, no conflicts | OMIM:613113.0037 |
single nucleotide variant | NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) | NF1 | Pathogenic/Likely pathogenic | 17 | 29528062 | 29528062 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA212552,UniProtKB:P21359#VAR_021733,OMIM:613113.0038 |
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 |
single nucleotide variant | NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg) | NF1 | Pathogenic | 17 | 29556164 | 29556164 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA251482,UniProtKB:P21359#VAR_002654,OMIM:613113.0043 |