Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NC_012920.1:m.13051G>A | MT-ND5 | Pathogenic/Likely pathogenic | MT | 13051 | 13051 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA414816093 |
single nucleotide variant | m.13042G>A | MT-ND5 | Likely pathogenic | MT | 13042 | 13042 | G | A | reviewed by expert panel | ClinGen:CA120633,OMIM:516005.0008 |
single nucleotide variant | m.12706T>C | MT-ND5 | Likely pathogenic | MT | 12706 | 12706 | T | C | reviewed by expert panel | ClinGen:CA120628,OMIM:516005.0003 |
single nucleotide variant | m.12258C>A | MT-TS2 | Likely pathogenic | MT | 12258 | 12258 | C | A | reviewed by expert panel | ClinGen:CA120544,OMIM:590085.0001 |
single nucleotide variant | m.12207G>A | MT-TS2 | Pathogenic | MT | 12207 | 12207 | G | A | criteria provided, single submitter | ClinGen:CA120545,OMIM:590085.0002 |
single nucleotide variant | m.12201T>C | MT-TH | Likely pathogenic | MT | 12201 | 12201 | T | C | reviewed by expert panel | ClinGen:CA259740,OMIM:590040.0004 |
single nucleotide variant | m.12147G>A | MT-TH | Likely pathogenic | MT | 12147 | 12147 | G | A | reviewed by expert panel | ClinGen:CA120576,OMIM:590040.0003 |
single nucleotide variant | NC_012920.1:m.9191T>C | MT-ATP6 | Likely pathogenic | MT | 9191 | 9191 | T | C | reviewed by expert panel | ClinGen:CA345914 |
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>G | MT-ATP6 | Likely pathogenic | MT | 9176 | 9176 | T | G | reviewed by expert panel | ClinGen:CA340929,OMIM:516060.0011 |