single nucleotide variant | NM_000053.4(ATP7B):c.2866-2A>G | ATP7B | Pathogenic | 13 | 52520616 | 52520616 | T | C | 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.1475T>C (p.Leu492Ser) | ATP7B | Likely pathogenic | 13 | 52544696 | 52544696 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.1543+1G>T | ATP7B | Pathogenic | 13 | 52544627 | 52544627 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) | ATP7B | Pathogenic | 13 | 52511519 | 52511519 | A | G | criteria provided, single submitter | - |
Deletion | NM_000053.4(ATP7B):c.1708-25_1719del | ATP7B | Pathogenic | 13 | 52539158 | 52539194 | TCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) | ATP7B | Pathogenic | 13 | 52524497 | 52524497 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) | ATP7B | Likely pathogenic | 13 | 52548706 | 52548706 | A | C | criteria provided, single submitter | - |
Duplication | NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) | ATP7B | Likely pathogenic | 13 | 52548617 | 52548618 | C | CA | criteria provided, single submitter | - |
Indel | NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) | ATP7B | Likely pathogenic | 13 | 52548133 | 52548135 | ATT | TATA | criteria provided, single submitter | - |