single nucleotide variant | NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) | ATP7B | Likely pathogenic | 13 | 52520517 | 52520517 | C | T | criteria provided, single submitter | ClinGen:CA16043475 |
single nucleotide variant | NM_000053.4(ATP7B):c.52-1G>T | ATP7B | Likely pathogenic | 13 | 52549305 | 52549305 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041684 |
single nucleotide variant | NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) | ATP7B | Likely pathogenic | 13 | 52549253 | 52549253 | T | A | criteria provided, single submitter | ClinGen:CA16041683 |
Insertion | NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) | ATP7B | Likely pathogenic | 13 | 52544833 | 52544834 | C | CAA | criteria provided, single submitter | ClinGen:CA16041680 |
single nucleotide variant | NM_000053.4(ATP7B):c.1708-2A>G | ATP7B | Likely pathogenic | 13 | 52539171 | 52539171 | T | C | criteria provided, single submitter | ClinGen:CA16041676 |
Duplication | NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) | ATP7B | Likely pathogenic | 13 | 52539056 | 52539057 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041673 |
Deletion | NM_000053.4(ATP7B):c.2447+1del | ATP7B | Likely pathogenic | 13 | 52531651 | 52531651 | AC | A | criteria provided, single submitter | ClinGen:CA16041670 |
single nucleotide variant | NM_000053.4(ATP7B):c.2730+1G>A | ATP7B | Likely pathogenic | 13 | 52524142 | 52524142 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041669 |
single nucleotide variant | NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) | ATP7B | Likely pathogenic | 13 | 52516617 | 52516617 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6988740 |
Deletion | NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) | ATP7B | Likely pathogenic | 13 | 52511715 | 52511715 | AT | A | criteria provided, single submitter | ClinGen:CA16041664 |