single nucleotide variant | NM_000096.4(CP):c.1948G>A (p.Gly650Arg) | CP | Pathogenic/Likely pathogenic | 3 | 148904436 | 148904436 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2660874 |
Deletion | NM_000096.4(CP):c.2066del (p.Pro689fs) | CP | Pathogenic/Likely pathogenic | 3 | 148904318 | 148904318 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA344601 |
single nucleotide variant | NM_000096.4(CP):c.2253G>A (p.Trp751Ter) | CP | Pathogenic | 3 | 148903058 | 148903058 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000096.4(CP):c.2498C>G (p.Ser833Ter) | CP | Pathogenic | 3 | 148899848 | 148899848 | G | C | criteria provided, single submitter | - |
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.2701C>T (p.Arg901Ter) | CP | Pathogenic | 3 | 148896379 | 148896379 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA344578 |
Duplication | NM_000096.4(CP):c.2702dup (p.Arg902fs) | CP | Pathogenic | 3 | 148896377 | 148896378 | T | TC | criteria provided, single submitter | - |
single nucleotide variant | NM_000096.4(CP):c.2756T>C (p.Leu919Pro) | CP | Pathogenic/Likely pathogenic | 3 | 148896324 | 148896324 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA354929700 |
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 |
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 |