single nucleotide variant | NM_000053.4(ATP7B):c.4022-2A>C | ATP7B | Likely pathogenic | 13 | 52509833 | 52509833 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3700-1G>A | ATP7B | Likely pathogenic | 13 | 52511816 | 52511816 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) | ATP7B | Likely pathogenic | 13 | 52515267 | 52515267 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2356-1G>A | ATP7B | Likely pathogenic | 13 | 52531744 | 52531744 | C | T | criteria provided, single submitter | - |
Duplication | NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) | ATP7B | Likely pathogenic | 13 | 52532579 | 52532580 | A | AT | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) | ATP7B | Likely pathogenic | 13 | 52534405 | 52534405 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.1544-2A>C | ATP7B | Likely pathogenic | 13 | 52542745 | 52542745 | T | G | criteria provided, single submitter | - |
Duplication | NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) | ATP7B | Likely pathogenic | 13 | 52509139 | 52509140 | T | TA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) | ATP7B | Likely pathogenic | 13 | 52513224 | 52513224 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3243+1G>A | ATP7B | Likely pathogenic | 13 | 52518244 | 52518244 | C | T | criteria provided, multiple submitters, no conflicts | - |