single nucleotide variant | NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) | NF2 | Pathogenic | 22 | 30070871 | 30070871 | G | T | criteria provided, single submitter | ClinGen:CA021321,OMIM:607379.0013 |
Deletion | NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) | NF2 | Pathogenic | 22 | 30070829 | 30070830 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658912 |
single nucleotide variant | NM_000268.4(NF2):c.1228C>T (p.Gln410Ter) | NF2 | Pathogenic | 22 | 30069363 | 30069363 | C | T | criteria provided, single submitter | ClinGen:CA411148247 |
single nucleotide variant | NM_000268.4(NF2):c.1219C>T (p.Gln407Ter) | NF2 | Pathogenic | 22 | 30069354 | 30069354 | C | T | criteria provided, single submitter | ClinGen:CA021304,OMIM:607379.0012 |
Deletion | NC_000022.11:g.(?_29673259)_(29673496_?)del | NF2 | Pathogenic | 22 | 30069248 | 30069485 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.1122+1G>A | NF2 | Pathogenic | 22 | 30067938 | 30067938 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) | NF2 | Pathogenic | 22 | 30067836 | 30067836 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021277,OMIM:607379.0011 |
single nucleotide variant | NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) | NF2 | Pathogenic | 22 | 30067818 | 30067818 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.999+1G>A | NF2 | Pathogenic | 22 | 30064436 | 30064436 | G | A | criteria provided, single submitter | - |
Deletion | NM_000268.4(NF2):c.970del (p.Gln324fs) | NF2 | Pathogenic | 22 | 30064404 | 30064404 | GC | G | criteria provided, single submitter | ClinGen:CA658799533 |