single nucleotide variant | m.3252A>G | MT-TL1 | Likely pathogenic | MT | 3252 | 3252 | A | G | criteria provided, single submitter | ClinGen:CA120564,OMIM:590050.0005 |
single nucleotide variant | m.3251A>G | MT-TL1 | Pathogenic | MT | 3251 | 3251 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA120565,OMIM:590050.0006 |
single nucleotide variant | NC_012920.1:m.3243A>G | MT-TL1 | Pathogenic/Likely pathogenic | MT | 3243 | 3243 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA120560,OMIM:590050.0001 |
single nucleotide variant | m.3242G>A | MT-TL1 | Pathogenic/Likely pathogenic | MT | 3242 | 3242 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA280144,OMIM:590050.0012 |
single nucleotide variant | m.1624C>T | MT-TV | Pathogenic/Likely pathogenic | MT | 1624 | 1624 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA120537,OMIM:590105.0002 |
single nucleotide variant | m.622G>A | MT-TF | Pathogenic | MT | 622 | 622 | G | A | criteria provided, single submitter | ClinGen:CA120551,OMIM:590070.0003 |
single nucleotide variant | m.616T>C | MT-TF | Likely pathogenic | MT | 616 | 616 | T | C | reviewed by expert panel | ClinGen:CA120552,OMIM:590070.0004 |
single nucleotide variant | m.586G>A | MT-TF | Pathogenic | MT | 586 | 586 | G | A | criteria provided, single submitter | ClinGen:CA128831,OMIM:590070.0006 |