| - GRCh37:
- Chr10:60148570
- GRCh38:
- Chr10:58388810
| TFAM | E148fs | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:60148451
- GRCh38:
- Chr10:58388691
| TFAM | A105T | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:60148029
- GRCh38:
- Chr10:58388269
| TFAM | | not provided, Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(Aug 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535973
- GRCh38:
- Chr2:27313106
| MPV17 | S25Y | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Aug 21, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:27535577
- GRCh38:
- Chr2:27312710
| MPV17 | | not provided | Likely benign
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535100
- GRCh38:
- Chr2:27312232
| MPV17 | | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535925
- GRCh38:
- Chr2:27313058
| MPV17 | R41Q | not provided, Mitochondrial DNA depletion syndrome, Charcot-Marie-Tooth disease, axonal, type 2EE
| Pathogenic/Likely pathogenic
(Mar 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27545354
- GRCh38:
- Chr2:27322487
| MPV17 | | not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535635
- GRCh38:
- Chr2:27312768
| MPV17 | P64R | Mitochondrial DNA depletion syndrome, not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
| Pathogenic/Likely pathogenic
(Oct 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27545924
- GRCh38:
- Chr2:27323057
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27545911
- GRCh38:
- Chr2:27323044
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535883
- GRCh38:
- Chr2:27313016
| MPV17 | V55A | Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), not provided
| Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535363
- GRCh38:
- Chr2:27312496
| MPV17 | R125W | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), not provided, Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27532746
- GRCh38:
- Chr2:27309878
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532650
- GRCh38:
- Chr2:27309782
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532433
- GRCh38:
- Chr2:27309565
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532420
- GRCh38:
- Chr2:27309552
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532367
- GRCh38:
- Chr2:27309499
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:60150616
- GRCh38:
- Chr10:58390856
| TFAM | P178L | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | Likely pathogenic
(Oct 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535630
- GRCh38:
- Chr2:27312763
| MPV17 | V66L | not provided | Uncertain significance
(Feb 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27545365
- GRCh38:
- Chr2:27322498
| LOC129933372, MPV17 | Y7C | not provided | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27534776-27534777
- GRCh38:
- Chr2:27311908-27311909
| MPV17 | L151fs | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(Jan 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535620
- GRCh38:
- Chr2:27312753
| MPV17 | W69* | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related mitochondrial DNA maintenance defect
| Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535899
- GRCh38:
- Chr2:27313032
| MPV17 | R50W | not provided | Pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |