single nucleotide variant | NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511631 | 52511631 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511697 | 52511697 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274408,UniProtKB:P35670#VAR_000784 |
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.3809A>G (p.Asn1270Ser) | ATP7B | Pathogenic | 13 | 52511706 | 52511706 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252896,UniProtKB:P35670#VAR_000783,OMIM:606882.0003,OMIM:606882.0017,ClinVar:424765,ClinVar:437912 |
Deletion | NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) | ATP7B | Likely pathogenic | 13 | 52511706 | 52511706 | AT | A | criteria provided, single submitter | - |
Deletion | NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) | ATP7B | Likely pathogenic | 13 | 52511715 | 52511715 | AT | A | criteria provided, single submitter | ClinGen:CA16041664 |
single nucleotide variant | NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) | ATP7B | Likely pathogenic | 13 | 52511715 | 52511715 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511719 | 52511719 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252890,UniProtKB:P35670#VAR_009028,OMIM:606882.0007 |
single nucleotide variant | NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511731 | 52511731 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511793 | 52511793 | G | A | criteria provided, multiple submitters, no conflicts | - |