Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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 | NC_012920.1:m.8969G>A | MT-ATP6 | Likely pathogenic | MT | 8969 | 8969 | G | A | reviewed by expert panel | ClinGen:CA199769,OMIM:516060.0012 |
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.9176T>G | MT-ATP6 | Likely pathogenic | MT | 9176 | 9176 | T | G | reviewed by expert panel | ClinGen:CA340929,OMIM:516060.0011 |
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 |