Indel | NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) | NF2 | Likely pathogenic | 22 | 30000045 | 30000048 | AAGA | GT | criteria provided, single submitter | - |
Duplication | NM_000268.4(NF2):c.69dup (p.Val24fs) | NF2 | Pathogenic | 22 | 30000054 | 30000055 | A | AC | criteria provided, single submitter | - |
Deletion | NC_000022.11:g.(?_29603989)_(29604122_?)del | NF2 | Pathogenic | 22 | 29999978 | 30000111 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.122G>A (p.Trp41Ter) | NF2 | Pathogenic | 22 | 30032747 | 30032747 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA411152423 |
single nucleotide variant | NM_000268.4(NF2):c.169C>T (p.Arg57Ter) | NF2 | Pathogenic | 22 | 30032794 | 30032794 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021370,OMIM:607379.0004 |
single nucleotide variant | NM_000268.4(NF2):c.180G>A (p.Trp60Ter) | NF2 | Pathogenic | 22 | 30032805 | 30032805 | G | A | criteria provided, single submitter | ClinGen:CA411152548 |
single nucleotide variant | NM_000268.4(NF2):c.240+1G>T | NF2 | Pathogenic | 22 | 30032866 | 30032866 | G | T | criteria provided, single submitter | OMIM:607379.0002,ClinGen:CA021419 |
Deletion | NM_000268.4(NF2):c.273del (p.Val92fs) | NF2 | Pathogenic | 22 | 30035111 | 30035111 | CA | C | criteria provided, single submitter | ClinGen:CA658656825 |
Deletion | NC_000022.11:g.(?_29639090)_(29639212_?)del | NF2 | Likely pathogenic | 22 | 30035079 | 30035201 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.363+1G>A | NF2 | Pathogenic | 22 | 30035202 | 30035202 | G | A | criteria provided, single submitter | - |