| - GRCh37:
- Chr22:46748016
- GRCh38:
- Chr22:46352119
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Aug 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15330528-15467873
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Apr 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751967
- GRCh38:
- Chr22:46356070
| TRMU | Q227*, Q253*, Q367* | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Mar 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46733762
- GRCh38:
- Chr22:46337865
| TRMU | A57S | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46731208-46731210
- GRCh38:
- Chr22:46335311-46335313
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46748165-46748166
- GRCh38:
- Chr22:46352268-46352269
| TRMU | Q124fs, Q238fs, Q98fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15492181
- GRCh38:
- Chr2:15352057
| NBAS | Q1372* | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jan 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15468437-15506703
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15468321
- GRCh38:
- Chr2:15328197
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Likely pathogenic
(Oct 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:15432849-15432850
- GRCh38:
- Chr2:15292725-15292726
| NBAS | V1613fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Pathogenic/Likely pathogenic
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46749663
- GRCh38:
- Chr22:46353766
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Nov 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15467936
- GRCh38:
- Chr2:15327812
| NBAS | L1507fs | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Pathogenic/Likely pathogenic
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:15470890-15496426
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145523097
- GRCh38:
- Chr5:146143534
| LARS1 | W531*, W539*, W558*, W585* | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:145539983
- GRCh38:
- Chr5:146160420
| LARS1 | Q167*, Q175*, Q194*, Q221* | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15448396-15448439
- GRCh38:
- Chr2:15308272-15308315
| NBAS | S1567fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15555844
- GRCh38:
- Chr2:15415720
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15432891-15467873
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751348
- GRCh38:
- Chr22:46355451
| TRMU | T155fs, T181fs, T295fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46749765
- GRCh38:
- Chr22:46353868
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15701428
- GRCh38:
- Chr2:15561304
| LOC129933155, NBAS | M1L | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752894-46752895
- GRCh38:
- Chr22:46356997-46356998
| TRMU | L280fs, L306fs, L420fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Mar 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:15378811-15601324
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:15567919-15629017
| NBAS | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46731688
- GRCh38:
- Chr22:46335791
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
| Likely benign
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46742317-46742318
- GRCh38:
- Chr22:46346420-46346421
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, not provided
| Likely pathogenic
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46733680
- GRCh38:
- Chr22:46337783
| TRMU | Y29* | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
| Pathogenic/Likely pathogenic
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46751886
- GRCh38:
- Chr22:46355989
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
| Likely pathogenic
(Jul 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:145508347
- GRCh38:
- Chr5:146128784
| LARS1 | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Mar 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:15615939
- GRCh38:
- Chr2:15475815
| NBAS | R405* | Infantile liver failure syndrome 2, not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
| Pathogenic/Likely pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:15307379
- GRCh38:
- Chr2:15167255
| NBAS | C2303* | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:15307411
- GRCh38:
- Chr2:15167287
| NBAS | L2293fs | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Jul 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46748039
- GRCh38:
- Chr22:46352142
| TRMU | G111R, G225R, G85R | not provided | Uncertain significance
(Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752879
- GRCh38:
- Chr22:46356982
| TRMU | | not provided | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46748160
- GRCh38:
- Chr22:46352263
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46749694
- GRCh38:
- Chr22:46353797
| TRMU | A128fs, A154fs, A268fs | Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided
| Pathogenic
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46739157
- GRCh38:
- Chr22:46343260
| TRMU | | Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46752848
- GRCh38:
- Chr22:46356951
| TRMU | T264I, T290I, T404I | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely benign
(Sep 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:46752848
- GRCh38:
- Chr22:46356951
| TRMU | H236Q, H376Q, T264N, T290N, T404N | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely benign
(Aug 19, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:46746333
- GRCh38:
- Chr22:46350436
| TRMU | R208S, R68S, R94S | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Sep 4, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:46742371
- GRCh38:
- Chr22:46346474
| TRMU | E136D, E22D, K16M | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Aug 13, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:46733667
- GRCh38:
- Chr22:46337770
| TRMU | | not provided | Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46748046
- GRCh38:
- Chr22:46352149
| TRMU | R113T, R227T, R87T | not specified, not provided | Uncertain significance
(Aug 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46752800
- GRCh38:
- Chr22:46356903
| TRMU | P388L, P274L, P248L | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752779
- GRCh38:
- Chr22:46356882
| TRMU | G241E, G267E, G381E | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46739166
- GRCh38:
- Chr22:46343269
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46733768
- GRCh38:
- Chr22:46337871
| TRMU | R59G | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751467
- GRCh38:
- Chr22:46355570
| TRMU | R194C, R220C, R334C | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46753223
- GRCh38:
- Chr22:46357326
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751369
- GRCh38:
- Chr22:46355472
| TRMU | Y187C, Y301C, Y161C | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness, not provided,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46753008
- GRCh38:
- Chr22:46357111
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752931
- GRCh38:
- Chr22:46357034
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46749660
- GRCh38:
- Chr22:46353763
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46748081
- GRCh38:
- Chr22:46352184
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46733710
- GRCh38:
- Chr22:46337813
| TRMU | W39* | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Pathogenic
(Nov 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46748019
- GRCh38:
- Chr22:46352122
| TRMU | S104I, S218I, S78I | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jan 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46749725
- GRCh38:
- Chr22:46353828
| TRMU | | not provided | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46733671
- GRCh38:
- Chr22:46337774
| TRMU | | not provided | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752762
- GRCh38:
- Chr22:46356865
| TRMU | R208*, R348* | not provided | Likely benign
(Sep 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46731751
- GRCh38:
- Chr22:46335854
| TRMU | | not provided | Likely benign
(Jan 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751377
- GRCh38:
- Chr22:46355480
| TRMU | L164V, L190V, L304V | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46733850
- GRCh38:
- Chr22:46337953
| TRMU | | not provided | Likely benign
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46733689-46733690
- GRCh38:
- Chr22:46337792-46337793
| TRMU | F35fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46749705
- GRCh38:
- Chr22:46353808
| TRMU | G272S, G132S, G158S | not provided | Uncertain significance
(Apr 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46739237-46739238
- GRCh38:
- Chr22:46343340-46343341
| TRMU | H112fs | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
| Pathogenic/Likely pathogenic
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46748075
- GRCh38:
- Chr22:46352178
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Uncertain significance
(Feb 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46751419
- GRCh38:
- Chr22:46355522
| TRMU | P318S, P204S, P178S | not provided, Inborn genetic diseases | Uncertain significance
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46733848-46733857
- GRCh38:
- Chr22:46337951-46337960
| TRMU | | not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46739261
- GRCh38:
- Chr22:46343364
| TRMU | | not provided | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46746206
- GRCh38:
- Chr22:46350309
| TRMU | A166E, A52E | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751342
- GRCh38:
- Chr22:46355445
| TRMU | R154fs, R180fs, R294fs | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely pathogenic
(Jun 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46731701
- GRCh38:
- Chr22:46335804
| TRMU | G14S | Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49399488
- GRCh38:
- Chr6:49431775
| MMUT | L736F | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
| Conflicting interpretations of pathogenicity
(Oct 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46751933-46751934
- GRCh38:
- Chr22:46356036-46356037
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not specified, not provided
| Conflicting interpretations of pathogenicity
(Jan 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46751421
- GRCh38:
- Chr22:46355524
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46751347
- GRCh38:
- Chr22:46355450
| TRMU | R294W, R154W, R180W | Inborn genetic diseases | Uncertain significance
(Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752736
- GRCh38:
- Chr22:46356839
| TRMU | | not provided | Likely pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46749776
- GRCh38:
- Chr22:46353879
| TRMU | | not specified, not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46746276
- GRCh38:
- Chr22:46350379
| TRMU | I189M, I75M, I49M | not specified, not provided | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46753179
- GRCh38:
- Chr22:46357282
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Benign
(Jun 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46753169-46753170
- GRCh38:
- Chr22:46357272-46357273
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46753113
- GRCh38:
- Chr22:46357216
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Benign/Likely benign
(Jul 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46753054
- GRCh38:
- Chr22:46357157
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Benign
(Jun 29, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46753052
- GRCh38:
- Chr22:46357155
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46753027
- GRCh38:
- Chr22:46357130
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Benign/Likely benign
(Dec 5, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46753016
- GRCh38:
- Chr22:46357119
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752954
- GRCh38:
- Chr22:46357057
| TRMU | | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46752946
- GRCh38:
- Chr22:46357049
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46752855
- GRCh38:
- Chr22:46356958
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46752825
- GRCh38:
- Chr22:46356928
| TRMU | P229A, P369A | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, not provided | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46752801
- GRCh38:
- Chr22:46356904
| TRMU | V221I, V361I | not specified, not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46752795
- GRCh38:
- Chr22:46356898
| TRMU | G219R, G359R | not specified, not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46751494
- GRCh38:
- Chr22:46355597
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46751419
- GRCh38:
- Chr22:46355522
| TRMU | P318A, P204A, P178A | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(May 25, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46751408
- GRCh38:
- Chr22:46355511
| TRMU | A314G, A174G, A200G | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46751394
- GRCh38:
- Chr22:46355497
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:46751346
- GRCh38:
- Chr22:46355449
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46749775
- GRCh38:
- Chr22:46353878
| TRMU | | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:46749756
- GRCh38:
- Chr22:46353859
| TRMU | V289M, V175M, V149M | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:46749744
- GRCh38:
- Chr22:46353847
| TRMU | V285I, V145I, V171I | not provided, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Uncertain significance
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |