single nucleotide variant | NM_030962.4(SBF2):c.4443+1G>A | SBF2 | Pathogenic | 11 | 9829546 | 9829546 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.4315C>T (p.Gln1439Ter) | SBF2 | Pathogenic | 11 | 9829675 | 9829675 | G | A | criteria provided, single submitter | ClinGen:CA10584394 |
single nucleotide variant | NM_030962.4(SBF2):c.4257+1G>A | SBF2 | Likely pathogenic | 11 | 9830447 | 9830447 | C | T | criteria provided, single submitter | ClinGen:CA10577431 |
single nucleotide variant | NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) | SBF2 | Likely pathogenic | 11 | 9838508 | 9838508 | A | G | criteria provided, single submitter | ClinGen:CA358114 |
single nucleotide variant | NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter) | SBF2 | Pathogenic | 11 | 9853837 | 9853837 | G | A | criteria provided, single submitter | ClinGen:CA115865,OMIM:607697.0003 |
single nucleotide variant | NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter) | SBF2 | Pathogenic | 11 | 9853897 | 9853897 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.2536+1G>A | SBF2 | Pathogenic | 11 | 9875086 | 9875086 | C | T | criteria provided, single submitter | ClinGen:CA16613653 |
single nucleotide variant | NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter) | SBF2 | Pathogenic | 11 | 9879922 | 9879922 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) | SBF2 | Pathogenic | 11 | 9990029 | 9990029 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:607697.0004,ClinGen:CA115868 |
single nucleotide variant | NM_030962.4(SBF2):c.1297-2A>G | SBF2 | Likely pathogenic | 11 | 10011144 | 10011144 | T | C | criteria provided, single submitter | - |