Deletion | NC_000022.11:g.(?_29639090)_(29639212_?)del | NF2 | Likely pathogenic | 22 | 30035079 | 30035201 | na | na | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_29668333)_(29671948_?)del | NF2 | Likely pathogenic | 22 | 30064322 | 30067937 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.655G>A (p.Val219Met) | NF2 | Likely pathogenic | 22 | 30054233 | 30054233 | G | A | criteria provided, single submitter | ClinGen:CA411143093 |
Duplication | NC_000022.10:g.(?_30077422)_(30077596_?)dup | NF2 | Likely pathogenic | 22 | 30077422 | 30077596 | na | na | criteria provided, single submitter | - |
Indel | NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) | NF2 | Likely pathogenic | 22 | 30000045 | 30000048 | AAGA | GT | criteria provided, single submitter | - |
Deletion | NM_000268.4(NF2):c.465del (p.Ser156fs) | NF2 | Likely pathogenic | 22 | 30050660 | 30050660 | AC | A | criteria provided, single submitter | - |
Duplication | NM_000268.4(NF2):c.1507dup (p.Asp503fs) | NF2 | Likely pathogenic | 22 | 30074244 | 30074245 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.1737+2T>A | NF2 | Likely pathogenic | 22 | 30077592 | 30077592 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.675+1G>A | NF2 | Likely pathogenic | 22 | 30054254 | 30054254 | G | A | 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 | - |