Deletion | NC_000013.11:g.(?_51937256)_(51939213_?)del | ATP7B | Likely pathogenic | 13 | 52511392 | 52513349 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3243+2T>C | ATP7B | Likely pathogenic | 13 | 52518243 | 52518243 | A | G | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_51944089)_(51946498_?)del | ATP7B | Pathogenic | 13 | 52518225 | 52520634 | na | na | criteria provided, single submitter | - |
Deletion | NM_000053.4(ATP7B):c.213_214del (p.Val73fs) | ATP7B | Pathogenic | 13 | 52549142 | 52549143 | CAT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) | ATP7B | Pathogenic | 13 | 52548197 | 52548198 | ACC | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer) | ATP7B | Pathogenic | 13 | 52532657 | 52532657 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52532502 | 52532502 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) | ATP7B | Pathogenic | 13 | 52524472 | 52524473 | T | TC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52524211 | 52524211 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) | ATP7B | Pathogenic | 13 | 52518409 | 52518409 | C | G | criteria provided, single submitter | - |