Deletion | NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) | ATP7B | Likely pathogenic | 13 | 52511715 | 52511715 | AT | A | criteria provided, single submitter | ClinGen:CA16041664 |
Deletion | NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) | ATP7B | Likely pathogenic | 13 | 52511706 | 52511706 | AT | A | criteria provided, single submitter | - |
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 |
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.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.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.3895C>T (p.Leu1299Phe) | ATP7B | Pathogenic/Likely pathogenic | 13 | 52511620 | 52511620 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274423 |
single nucleotide variant | NM_000053.4(ATP7B):c.3904-2A>G | ATP7B | Pathogenic | 13 | 52511531 | 52511531 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041663 |
Indel | NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) | ATP7B | Likely pathogenic | 13 | 52511520 | 52511521 | GC | AA | criteria provided, single submitter | ClinGen:CA658798147 |
single nucleotide variant | NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) | ATP7B | Pathogenic | 13 | 52511519 | 52511519 | A | G | criteria provided, single submitter | - |