Deletion | NM_000268.4(NF2):c.563_564del (p.Ile188fs) | NF2 | Pathogenic | 22 | 30051629 | 30051630 | ATT | A | criteria provided, single submitter | ClinGen:CA645601020 |
single nucleotide variant | NM_000268.4(NF2):c.586C>T (p.Arg196Ter) | NF2 | Pathogenic | 22 | 30051652 | 30051652 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA411142679 |
Deletion | NM_000268.4(NF2):c.583_589del (p.His195fs) | NF2 | Pathogenic | 22 | 30051646 | 30051652 | AGAGCACC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000268.4(NF2):c.592C>T (p.Arg198Ter) | NF2 | Pathogenic | 22 | 30051658 | 30051658 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA411142708 |
single nucleotide variant | NM_000268.4(NF2):c.599+1G>T | NF2 | Pathogenic/Likely pathogenic | 22 | 30051666 | 30051666 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA411142734 |
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 |
Insertion | NM_000268.4(NF2):c.656_657insA (p.Asn220fs) | NF2 | Pathogenic | 22 | 30054234 | 30054235 | T | TA | criteria provided, single submitter | ClinGen:CA658656829 |
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 | - |
single nucleotide variant | NM_000268.4(NF2):c.675+1G>C | NF2 | Pathogenic | 22 | 30054254 | 30054254 | G | C | criteria provided, single submitter | ClinGen:CA411143139 |
single nucleotide variant | NM_000268.4(NF2):c.675+1G>A | NF2 | Likely pathogenic | 22 | 30054254 | 30054254 | G | A | criteria provided, single submitter | - |