Duplication | NM_000053.4(ATP7B):c.174dup (p.Thr59fs) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52549181 | 52549182 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041682 |
single nucleotide variant | NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52549234 | 52549234 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA271166,UniProtKB:P35670#VAR_023011 |
Duplication | NM_000053.4(ATP7B):c.111dup (p.Ala38fs) | ATP7B | Pathogenic | 13 | 52549244 | 52549245 | C | CA | criteria provided, multiple submitters, no conflicts | - |
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 |
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.51+4A>T | ATP7B | Pathogenic/Likely pathogenic | 13 | 52585419 | 52585419 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6989708 |
Deletion | NM_001406511.1(ATP7B):c.-55+247_-55+261del | ATP7B | Pathogenic | 13 | 52585895 | 52585909 | TCCGCGGTCTCGGCCA | T | criteria provided, multiple submitters, no conflicts | OMIM:606882.0010 |