| - GRCh37:
- Chr12:58179957
- GRCh38:
- Chr12:57786174
| TSFM | W81* | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Oct 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58177027
- GRCh38:
- Chr12:57783244
| TSFM | C64* | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:58186836
- GRCh38:
- Chr12:57793053
| TSFM | D184fs, D205fs | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Likely pathogenic
(Feb 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58180035
- GRCh38:
- Chr12:57786252
| TSFM | I107M | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Oct 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190162
- GRCh38:
- Chr12:57796379
| TSFM | Q258H, Q279H | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Likely pathogenic
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190136
- GRCh38:
- Chr12:57796353
| TSFM | E250*, E271* | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Pathogenic
(Mar 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190214
- GRCh38:
- Chr12:57796431
| TSFM | G277fs, G298fs | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58179983
- GRCh38:
- Chr12:57786200
| TSFM | G90D | not provided, Inborn genetic diseases | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58196528
- GRCh38:
- Chr12:57802745
| AVIL, TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58196447
- GRCh38:
- Chr12:57802664
| AVIL, TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58177066-58177067
- GRCh38:
- Chr12:57783283-57783284
| TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58176594
- GRCh38:
- Chr12:57782811
| TSFM | | not provided | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58189989
- GRCh38:
- Chr12:57796206
| TSFM | R201*, R222* | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58191232
- GRCh38:
- Chr12:57797449
| AVIL, TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58191022
- GRCh38:
- Chr12:57797239
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190924
- GRCh38:
- Chr12:57797141
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190920
- GRCh38:
- Chr12:57797137
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190857
- GRCh38:
- Chr12:57797074
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58180036
- GRCh38:
- Chr12:57786253
| TSFM | G108R | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Uncertain significance
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58176975
- GRCh38:
- Chr12:57783192
| TSFM | K47R | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58176632
- GRCh38:
- Chr12:57782849
| TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58190747
- GRCh38:
- Chr12:57796964
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190657
- GRCh38:
- Chr12:57796874
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190542
- GRCh38:
- Chr12:57796759
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190464
- GRCh38:
- Chr12:57796681
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190175
- GRCh38:
- Chr12:57796392
| TSFM | M284L, M263L | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190296-58190297
- GRCh38:
- Chr12:57796513-57796514
| TSFM | Q324fs, Q303fs | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Likely pathogenic
(Dec 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58176996
- GRCh38:
- Chr12:57783213
| TSFM | R54Q | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Uncertain significance
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190114
- GRCh38:
- Chr12:57796331
| TSFM | | not provided | Likely benign
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190273
- GRCh38:
- Chr12:57796490
| TSFM | | not provided | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58186759
- GRCh38:
- Chr12:57792976
| TSFM | | not provided | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58176596
- GRCh38:
- Chr12:57782813
| TSFM | | not provided | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58176589
- GRCh38:
- Chr12:57782806
| TSFM | S2L | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190185
- GRCh38:
- Chr12:57796402
| TSFM | L287H, L266H | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| | | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Likely pathogenic
(Apr 29, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190032
- GRCh38:
- Chr12:57796249
| TSFM | S236F, S215F | not provided, Inborn genetic diseases, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58191363
- GRCh38:
- Chr12:57797580
| AVIL, TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58191324
- GRCh38:
- Chr12:57797541
| AVIL, TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58191261
- GRCh38:
- Chr12:57797478
| AVIL, TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190927
- GRCh38:
- Chr12:57797144
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190827
- GRCh38:
- Chr12:57797044
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190778
- GRCh38:
- Chr12:57796995
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190628
- GRCh38:
- Chr12:57796845
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190576
- GRCh38:
- Chr12:57796793
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190548
- GRCh38:
- Chr12:57796765
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190386
- GRCh38:
- Chr12:57796603
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58190204
- GRCh38:
- Chr12:57796421
| TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58190202
- GRCh38:
- Chr12:57796419
| TSFM | D293H, D272H | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190148
- GRCh38:
- Chr12:57796365
| TSFM | R275C, R254C | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58190076
- GRCh38:
- Chr12:57796293
| TSFM | V251L, V230L | not provided, See cases, Inborn genetic diseases,
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Mar 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58186824
- GRCh38:
- Chr12:57793041
| TSFM | G201A, G180A | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58186805
- GRCh38:
- Chr12:57793022
| TSFM | A174S, A195S | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Uncertain significance
(Nov 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58186758
- GRCh38:
- Chr12:57792975
| TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58180870
- GRCh38:
- Chr12:57787087
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58180837
- GRCh38:
- Chr12:57787054
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58180809
- GRCh38:
- Chr12:57787026
| TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58179985
- GRCh38:
- Chr12:57786202
| TSFM | W91G | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58179938
- GRCh38:
- Chr12:57786155
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:58176904
- GRCh38:
- Chr12:57783121
| TSFM | | not specified, not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58176614
- GRCh38:
- Chr12:57782831
| TSFM | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190184
- GRCh38:
- Chr12:57796401
| TSFM | L287I, L266I | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58176645
- GRCh38:
- Chr12:57782862
| TSFM | | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Conflicting interpretations of pathogenicity
(Aug 22, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr12:58190332
- GRCh38:
- Chr12:57796549
| TSFM | C315Y, C336Y | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Likely pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190244
- GRCh38:
- Chr12:57796461
| TSFM | Q286*, Q307* | not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | Pathogenic/Likely pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58176608
- GRCh38:
- Chr12:57782825
| TSFM | | not specified, not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58180811
- GRCh38:
- Chr12:57787028
| TSFM | | not specified, not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:58179927
- GRCh38:
- Chr12:57786144
| TSFM | | not specified, not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190142
- GRCh38:
- Chr12:57796359
| TSFM | V273I, V252I | not specified, not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58190322
- GRCh38:
- Chr12:57796539
| TSFM | R333W, R312W | Inborn genetic diseases, not provided, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| Pathogenic
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |