| - GRCh37:
- ChrMT:10947-15537
- GRCh38:
- ChrMT:10947-15537
| MT-TL2, MT-TS2, MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH | | Pearson syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrMT:8350-13450
- GRCh38:
- ChrMT:8350-13450
| MT-TR, MT-TS2, MT-TK, MT-TL2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH | | Pearson syndrome | Pathogenic
(Jun 12, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrMT:8480-13440
- GRCh38:
- ChrMT:8480-13440
| MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TR, MT-TS2, MT-TG, MT-TH, MT-TL2 | | Pearson syndrome | Pathogenic
(Jun 12, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr17:7124132
- GRCh38:
- Chr17:7220813
| ACADVL | V109M, V33M, V132M, V87M | Pearson syndrome, Very long chain acyl-CoA dehydrogenase deficiency | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7125356-7125357
- GRCh38:
- Chr17:7222037-7222038
| ACADVL | C161fs, C260fs, C215fs, C237fs | Very long chain acyl-CoA dehydrogenase deficiency | Pathogenic/Likely pathogenic
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7125591
- GRCh38:
- Chr17:7222272
| ACADVL | V283A, V207A, V306A, V261A | Very long chain acyl-CoA dehydrogenase deficiency | Pathogenic
(Aug 23, 2022) | reviewed by expert panel
FDA Recognized Database |