single nucleotide variant | NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52532502 | 52532502 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52524211 | 52524211 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511631 | 52511631 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52509831 | 52509831 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52548386 | 52548386 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52532505 | 52532505 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511440 | 52511443 | TATAA | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2121+3A>G | ATP7B | Pathogenic/Likely pathogenic | 13 | 52534281 | 52534281 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2122-1G>A | ATP7B | Pathogenic/Likely pathogenic | 13 | 52532681 | 52532681 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3061-12T>A | ATP7B | Pathogenic/Likely pathogenic | 13 | 52518439 | 52518439 | A | T | criteria provided, multiple submitters, no conflicts | - |