single nucleotide variant | NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) | ATP7B | Pathogenic | 13 | 52523908 | 52523908 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252895,UniProtKB:P35670#VAR_000739,OMIM:606882.0014 |
single nucleotide variant | NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) | ATP7B | Pathogenic | 13 | 52523836 | 52523836 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252894,UniProtKB:P35670#VAR_000745,OMIM:606882.0013 |
single nucleotide variant | NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) | ATP7B | Pathogenic | 13 | 52532509 | 52532509 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252893,UniProtKB:P35670#VAR_000724,OMIM:606882.0012 |
single nucleotide variant | NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) | ATP7B | Pathogenic | 13 | 52532469 | 52532469 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340126,UniProtKB:P35670#VAR_000728,OMIM:606882.0009 |
single nucleotide variant | NM_000053.4(ATP7B):c.1708-1G>C | ATP7B | Pathogenic | 13 | 52539170 | 52539170 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA252891,OMIM:606882.0008 |
single nucleotide variant | NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511719 | 52511719 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252890,UniProtKB:P35670#VAR_009028,OMIM:606882.0007 |
single nucleotide variant | NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) | ATP7B | Pathogenic | 13 | 52518281 | 52518281 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220309,UniProtKB:P35670#VAR_000758,OMIM:606882.0002,OMIM:606882.0006 |