Deletion | NC_000022.11:g.(?_29673259)_(29673496_?)del | NF2 | Pathogenic | 22 | 30069248 | 30069485 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_29603989)_(29681611_?)del | NF2 | Pathogenic | 22 | 29999978 | 30077600 | na | na | criteria provided, single submitter | - |
Deletion | NM_000268.4(NF2):c.517-92_568del | NF2 | Pathogenic | 22 | 30051485 | 30051628 | TTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.1446+1G>A | NF2 | Likely pathogenic | 22 | 30070931 | 30070931 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.516+1G>A | NF2 | Pathogenic | 22 | 30050715 | 30050715 | G | A | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_29603989)_(29604122_?)del | NF2 | Pathogenic | 22 | 29999978 | 30000111 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_29636741)_(29639222_?)del | NF2 | Pathogenic | 22 | 30032730 | 30035211 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) | NF2 | Pathogenic | 22 | 30077499 | 30077499 | T | A | criteria provided, single submitter | - |
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.658A>T (p.Asn220Tyr) | NF2 | Pathogenic | 22 | 30054236 | 30054236 | A | T | criteria provided, multiple submitters, no conflicts | - |