Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) | ATP7B | Likely pathogenic | 13 | 52511490 | 52511491 | TTG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041662 |
Deletion | NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) | ATP7B | Likely pathogenic | 13 | 52511485 | 52511485 | TC | T | criteria provided, single submitter | ClinGen:CA16041661 |
Deletion | NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) | ATP7B | Likely pathogenic | 13 | 52509048 | 52509048 | TG | T | criteria provided, single submitter | ClinGen:CA16041659 |
single nucleotide variant | NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) | ATP7B | Likely pathogenic | 13 | 52549102 | 52549102 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274300,UniProtKB:P35670#VAR_000703 |
single nucleotide variant | NM_000053.4(ATP7B):c.1285+2T>A | ATP7B | Likely pathogenic | 13 | 52548069 | 52548069 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274399 |
Deletion | NM_000053.4(ATP7B):c.2035del (p.His679fs) | ATP7B | Likely pathogenic | 13 | 52534370 | 52534370 | TG | T | criteria provided, single submitter | ClinGen:CA274483 |
Duplication | NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) | ATP7B | Likely pathogenic | 13 | 52515220 | 52515221 | C | CA | criteria provided, single submitter | OMIM:606882.0005,ClinGen:CA274387 |