Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | m.5521G>A | MT-TW | Likely pathogenic | MT | 5521 | 5521 | G | A | reviewed by expert panel | ClinGen:CA254831,OMIM:590095.0003 |
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.7510T>C | MT-TS1 | Likely pathogenic | MT | 7510 | 7510 | T | C | reviewed by expert panel | ClinGen:CA340921,OMIM:590080.0004 |
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.7497G>A | MT-TS1 | Likely pathogenic | MT | 7497 | 7497 | G | A | reviewed by expert panel | ClinGen:CA120548,OMIM:590080.0008 |
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.8356T>C | MT-TK | Likely pathogenic | MT | 8356 | 8356 | T | C | reviewed by expert panel | ClinGen:CA120554,OMIM:590060.0002 |
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.8313G>A | MT-TK | Likely pathogenic | MT | 8313 | 8313 | G | A | reviewed by expert panel | ClinGen:CA254837,OMIM:590060.0004 |
single nucleotide variant | m.3256C>T | MT-TL1 | Likely pathogenic | MT | 3256 | 3256 | C | T | reviewed by expert panel | ClinGen:CA120561,OMIM:590050.0003 |