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.147-2A>G | CP | Pathogenic | 3 | 148930487 | 148930487 | T | C | criteria provided, single submitter | ClinGen:CA16042423 |
Deletion | NM_000096.4(CP):c.607+1del | CP | Pathogenic/Likely pathogenic | 3 | 148927953 | 148927953 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA2661285 |
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.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 |
Deletion | NC_000003.12:g.(?_149206148)_(149206359_?)del | CP | Pathogenic | 3 | 148923935 | 148924146 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000096.4(CP):c.1208+1G>A | CP | Pathogenic | 3 | 148923954 | 148923954 | C | T | criteria provided, single submitter | ClinGen:CA354912612 |
Deletion | NM_000096.4(CP):c.1613del (p.Met538fs) | CP | Pathogenic | 3 | 148916254 | 148916254 | CA | C | criteria provided, single submitter | - |
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 |