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.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 |
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 | m.8363G>A | MT-TK | Likely pathogenic | MT | 8363 | 8363 | G | A | reviewed by expert panel | ClinGen:CA120555,OMIM:590060.0003 |
single nucleotide variant | m.8356T>C | MT-TK | Likely pathogenic | MT | 8356 | 8356 | T | C | reviewed by expert panel | ClinGen:CA120554,OMIM:590060.0002 |
single nucleotide variant | m.8344A>G | MT-TK | Pathogenic | MT | 8344 | 8344 | A | G | reviewed by expert panel | ClinGen:CA254836,OMIM:590060.0001 |
single nucleotide variant | m.8313G>A | MT-TK | Likely pathogenic | MT | 8313 | 8313 | G | A | reviewed by expert panel | ClinGen:CA254837,OMIM:590060.0004 |
single nucleotide variant | m.7512T>C | MT-TS1 | Pathogenic/Likely pathogenic | MT | 7512 | 7512 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA120546,OMIM:590080.0001 |
single nucleotide variant | m.7511T>C | MT-TS1 | Likely pathogenic | MT | 7511 | 7511 | T | C | reviewed by expert panel | ClinGen:CA340922,OMIM:590080.0005 |
single nucleotide variant | m.7510T>C | MT-TS1 | Likely pathogenic | MT | 7510 | 7510 | T | C | reviewed by expert panel | ClinGen:CA340921,OMIM:590080.0004 |