Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | m.14568C>T | MT-ND6 | Likely pathogenic | MT | 14568 | 14568 | C | T | reviewed by expert panel | ClinGen:CA344825 |
single nucleotide variant | m.14495A>G | MT-ND6 | Likely pathogenic | MT | 14495 | 14495 | A | G | reviewed by expert panel | ClinGen:CA340933,OMIM:516006.0004 |
single nucleotide variant | m.14487T>C | MT-ND6 | Pathogenic | MT | 14487 | 14487 | T | C | reviewed by expert panel | ClinGen:CA120627,OMIM:516006.0007 |
single nucleotide variant | NC_012920.1:m.14484T>C | MT-ND6 | Pathogenic | MT | 14484 | 14484 | T | C | reviewed by expert panel | ClinGen:CA340932,OMIM:516006.0001 |
single nucleotide variant | m.14482C>G | MT-ND6 | Likely pathogenic | MT | 14482 | 14482 | C | G | reviewed by expert panel | ClinGen:CA344824 |
single nucleotide variant | m.14482C>A | MT-ND6 | Likely pathogenic | MT | 14482 | 14482 | C | A | reviewed by expert panel | ClinGen:CA340934,OMIM:516006.0006 |
single nucleotide variant | m.14459G>A | MT-ND6 | Pathogenic | MT | 14459 | 14459 | G | A | reviewed by expert panel | ClinGen:CA120625,OMIM:516006.0002 |
single nucleotide variant | m.14453G>A | MT-ND6 | Likely pathogenic | MT | 14453 | 14453 | G | A | reviewed by expert panel | ClinGen:CA254853,OMIM:516006.0005 |
single nucleotide variant | NC_012920.1:m.13514A>G | MT-ND5 | Likely pathogenic | MT | 13514 | 13514 | A | G | reviewed by expert panel | ClinGen:CA345918 |
single nucleotide variant | m.13513G>A | MT-ND5 | Pathogenic | MT | 13513 | 13513 | G | A | reviewed by expert panel | ClinGen:CA120632,OMIM:516005.0007 |