single nucleotide variant | NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) | ATP7B | Likely pathogenic | 13 | 52531671 | 52531671 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2447+2T>G | ATP7B | Likely pathogenic | 13 | 52531650 | 52531650 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2575+1G>A | ATP7B | Pathogenic/Likely pathogenic | 13 | 52524407 | 52524407 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) | ATP7B | Likely pathogenic | 13 | 52524253 | 52524253 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) | ATP7B | Likely pathogenic | 13 | 52523920 | 52523920 | G | A | criteria provided, single submitter | - |
Deletion | NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52523831 | 52523837 | TAAAACCG | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52520482 | 52520482 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) | ATP7B | Likely pathogenic | 13 | 52511706 | 52511706 | AT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511697 | 52511697 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52548794 | 52548794 | G | A | criteria provided, multiple submitters, no conflicts | - |