| - GRCh37:
- Chr2:27535616
- GRCh38:
- Chr2:27312749
| MPV17, UCN | Y70* | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535455
- GRCh38:
- Chr2:27312588
| MPV17 | G94E | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535085
- GRCh38:
- Chr2:27312217
| MPV17 | Y135* | not provided | Pathogenic/Likely pathogenic
(Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535102
- GRCh38:
- Chr2:27312234
| MPV17 | A130P | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532870
- GRCh38:
- Chr2:27310002
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal, type 2EE, not provided
| Benign
(Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535867
- GRCh38:
- Chr2:27313000
| MPV17 | | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal, type 2EE
| Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27534800
- GRCh38:
- Chr2:27311932
| MPV17 | L143* | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal, type 2EE
| Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535549
- GRCh38:
- Chr2:27312682
| MPV17 | Q93* | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535445
- GRCh38:
- Chr2:27312578
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532726
- GRCh38:
- Chr2:27309858
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532708
- GRCh38:
- Chr2:27309840
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532592
- GRCh38:
- Chr2:27309724
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532551
- GRCh38:
- Chr2:27309683
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532429
- GRCh38:
- Chr2:27309561
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532414
- GRCh38:
- Chr2:27309546
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532413
- GRCh38:
- Chr2:27309545
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535603
- GRCh38:
- Chr2:27312736
| MPV17 | R75G | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | 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:
- Chr2:27535082
- GRCh38:
- Chr2:27312214
| MPV17 | Y136* | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535629
- GRCh38:
- Chr2:27312762
| MPV17 | V66E | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535917
- GRCh38:
- Chr2:27313050
| MPV17 | Q44* | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535940
- GRCh38:
- Chr2:27313073
| MPV17 | Q36P | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27545323
- GRCh38:
- Chr2:27322456
| MPV17 | L21R | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535548
- GRCh38:
- Chr2:27312681
| MPV17 | Q93P | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), not provided | Pathogenic/Likely pathogenic
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27545318
- GRCh38:
- Chr2:27322451
| MPV17 | A23P | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535546
- GRCh38:
- Chr2:27312679
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27534813-27534814
- GRCh38:
- Chr2:27311945-27311946
| MPV17 | P139fs | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(May 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535087
- GRCh38:
- Chr2:27312219
| MPV17 | Y135N | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(May 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535925
- GRCh38:
- Chr2:27313058
| MPV17 | R41Q | Mitochondrial DNA depletion syndrome, Charcot-Marie-Tooth disease, axonal, type 2EE, not provided
| Pathogenic/Likely pathogenic
(Mar 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535453
- GRCh38:
- Chr2:27312586
| MPV17 | G95S | Charcot-Marie-Tooth disease, axonal, type 2EE, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), not provided
| Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535891
- GRCh38:
- Chr2:27313024
| MPV17 | | not provided | Conflicting interpretations of pathogenicity
(Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27534777
- GRCh38:
- Chr2:27311909
| MPV17 | L151F | Inborn genetic diseases, not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
| Uncertain significance
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535968-27535978
- GRCh38:
- Chr2:27313101-27313111
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(Dec 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535115
- GRCh38:
- Chr2:27312247
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(Dec 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535116
- GRCh38:
- Chr2:27312248
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(Dec 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535443
- GRCh38:
- Chr2:27312576
| MPV17 | P98fs | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535439
- GRCh38:
- Chr2:27312572
| MPV17 | C99* | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535452
- GRCh38:
- Chr2:27312585
| MPV17 | G95D | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Aug 13, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535551
- GRCh38:
- Chr2:27312684
| MPV17 | D92G | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535081
- GRCh38:
- Chr2:27312213
| MPV17 | | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Jul 31, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27534767
- GRCh38:
- Chr2:27311899
| MPV17 | R154M | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535361
- GRCh38:
- Chr2:27312494
| MPV17 | | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27534784
- GRCh38:
- Chr2:27311916
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), not provided | Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27532768
- GRCh38:
- Chr2:27309900
| MPV17 | | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(May 21, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535635
- GRCh38:
- Chr2:27312768
| MPV17 | P64R | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27545924
- GRCh38:
- Chr2:27323057
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27545911
- GRCh38:
- Chr2:27323044
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535883
- GRCh38:
- Chr2:27313016
| MPV17 | V55A | Mitochondrial DNA depletion syndrome, not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
| Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535363
- GRCh38:
- Chr2:27312496
| MPV17 | R125W | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27532746
- GRCh38:
- Chr2:27309878
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532700
- GRCh38:
- Chr2:27309832
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532650
- GRCh38:
- Chr2:27309782
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532586
- GRCh38:
- Chr2:27309718
| MPV17 | | Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532433
- GRCh38:
- Chr2:27309565
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532420
- GRCh38:
- Chr2:27309552
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27532367
- GRCh38:
- Chr2:27309499
| MPV17 | | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535451-27535452
- GRCh38:
- Chr2:27312584-27312585
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), not provided | Pathogenic
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27545324
- GRCh38:
- Chr2:27322457
| MPV17 | L21V | not provided | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535587
- GRCh38:
- Chr2:27312720
| MPV17 | T80I | not specified, not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
| Conflicting interpretations of pathogenicity
(Aug 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535941
- GRCh38:
- Chr2:27313074
| MPV17 | Q36* | Charcot-Marie-Tooth disease, axonal, type 2EE, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(Jun 5, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:27535912
- GRCh38:
- Chr2:27313045
| MPV17 | E45fs | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic/Likely pathogenic
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535926
- GRCh38:
- Chr2:27313059
| MPV17 | R41W | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27545358
- GRCh38:
- Chr2:27322491
| MPV17 | | Mitochondrial DNA depletion syndrome, not provided, not specified,
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27532802
- GRCh38:
- Chr2:27309934
| MPV17 | S170F | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Likely pathogenic
(Aug 13, 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:
- Chr2:27535443
- GRCh38:
- Chr2:27312576
| MPV17 | P98L | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease, axonal, type 2EE, MPV17-Related Disorders,
not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535553-27535555
- GRCh38:
- Chr2:27312686-27312688
| MPV17 | L91del | Mitochondrial DNA depletion syndrome, not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:27535561-27535563
- GRCh38:
- Chr2:27312694-27312696
| MPV17 | K88del | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic/Likely pathogenic
(Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535584-27535592
- GRCh38:
- Chr2:27312717-27312725
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Aug 13, 2019) | criteria provided, single submitter |
| - 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:
- Chr2:27535859
- GRCh38:
- Chr2:27312992
| MPV17 | | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic/Likely pathogenic
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27532179-27533752
- GRCh38:
- Chr2:27309311-27310884
| MPV17 | | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(May 17, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:27545315
- GRCh38:
- Chr2:27322448
| MPV17 | G24W | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Uncertain significance
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:27535377
- GRCh38:
- Chr2:27312510
| MPV17 | W120* | not provided, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27535900-27535925
- GRCh38:
- Chr2:27313033-27313058
| MPV17 | R41fs | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(May 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr2:27535899
- GRCh38:
- Chr2:27313032
| MPV17 | R50W | not provided | Pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:27532813
- GRCh38:
- Chr2:27309945
| MPV17 | N166K | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Pathogenic
(May 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr2:27535898
- GRCh38:
- Chr2:27313031
| MPV17 | R50Q | Mitochondrial DNA depletion syndrome, not provided | Pathogenic
(Dec 14, 2022) | criteria provided, multiple submitters, no conflicts |