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 | - |
Deletion | NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) | ATP7B | Pathogenic | 13 | 52548548 | 52548554 | GACTTACA | G | 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.1531C>T (p.Gln511Ter) | ATP7B | Pathogenic | 13 | 52544640 | 52544640 | G | 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 | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) | ATP7B | Pathogenic | 13 | 52523868 | 52523868 | G | T | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) | ATP7B | Pathogenic | 13 | 52518403 | 52518405 | TCT | C | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) | ATP7B | Likely pathogenic | 13 | 52516634 | 52516636 | ACA | TGGCACTGCCTGGCACT | criteria provided, single submitter | - |
Insertion | NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) | ATP7B | Likely pathogenic | 13 | 52516632 | 52516633 | C | CCTGGCACTGCCTGG | criteria provided, single submitter | - |