single nucleotide variant | NM_000096.4(CP):c.848G>C (p.Trp283Ser) | CP | Likely pathogenic | 3 | 148925338 | 148925338 | C | G | criteria provided, single submitter | ClinGen:CA344580 |
single nucleotide variant | NM_000096.4(CP):c.928C>G (p.Arg310Gly) | CP | Likely pathogenic | 3 | 148925258 | 148925258 | G | C | criteria provided, single submitter | ClinGen:CA16042482 |
single nucleotide variant | NM_000096.4(CP):c.1679G>T (p.Cys560Phe) | CP | Likely pathogenic | 3 | 148916188 | 148916188 | C | A | criteria provided, single submitter | ClinGen:CA16621520 |
single nucleotide variant | NM_000096.4(CP):c.2879-1G>T | CP | Likely pathogenic | 3 | 148895767 | 148895767 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA85528141 |
Deletion | NM_000096.4(CP):c.48del (p.Ala17fs) | CP | Likely pathogenic | 3 | 148939532 | 148939532 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000096.4(CP):c.3019-1G>A | CP | Pathogenic | 3 | 148894200 | 148894200 | C | T | criteria provided, single submitter | ClinGen:CA127255,OMIM:117700.0001 |
single nucleotide variant | NM_000096.4(CP):c.2630G>A (p.Trp877Ter) | CP | Pathogenic | 3 | 148897374 | 148897374 | C | T | criteria provided, single submitter | ClinGen:CA127258,OMIM:117700.0003 |
single nucleotide variant | NM_000096.4(CP):c.643C>T (p.Arg215Ter) | CP | Pathogenic | 3 | 148927136 | 148927136 | G | A | criteria provided, single submitter | ClinGen:CA344574 |
single nucleotide variant | NM_000096.4(CP):c.2701C>T (p.Arg901Ter) | CP | Pathogenic | 3 | 148896379 | 148896379 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA344578 |
single nucleotide variant | NM_000096.4(CP):c.147-2A>G | CP | Pathogenic | 3 | 148930487 | 148930487 | T | C | criteria provided, single submitter | ClinGen:CA16042423 |