Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | m.586G>A | MT-TF | Pathogenic | MT | 586 | 586 | G | A | criteria provided, single submitter | ClinGen:CA128831,OMIM:590070.0006 |
single nucleotide variant | m.4160T>C | MT-ND1 | Pathogenic | MT | 4160 | 4160 | T | C | criteria provided, single submitter | ClinGen:CA340942,OMIM:516000.0002 |
single nucleotide variant | NC_012920.1:m.3460G>A | MT-ND1 | Pathogenic | MT | 3460 | 3460 | G | A | reviewed by expert panel | ClinGen:CA120646,OMIM:516000.0001 |
single nucleotide variant | m.13513G>A | MT-ND5 | Pathogenic | MT | 13513 | 13513 | G | A | reviewed by expert panel | ClinGen:CA120632,OMIM:516005.0007 |
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 | m.14459G>A | MT-ND6 | Pathogenic | MT | 14459 | 14459 | G | A | reviewed by expert panel | ClinGen:CA120625,OMIM:516006.0002 |
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 | NC_012920.1:m.9185T>C | MT-ATP6 | Pathogenic | MT | 9185 | 9185 | T | C | reviewed by expert panel | ClinGen:CA340928,OMIM:516060.0008 |
single nucleotide variant | NC_012920.1:m.9176T>C | MT-ATP6 | Pathogenic | MT | 9176 | 9176 | T | C | reviewed by expert panel | ClinGen:CA120597,OMIM:516060.0005 |
single nucleotide variant | NC_012920.1:m.8993T>C | MT-ATP6 | Pathogenic | MT | 8993 | 8993 | T | C | reviewed by expert panel | OMIM:516060.0002,ClinGen:CA120596 |