| - GRCh37:
- Chr13:48528530
- GRCh38:
- Chr13:47954395
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523705
- GRCh38:
- Chr13:47949570
| SUCLA2 | I381V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562755
- GRCh38:
- Chr13:47988620
| SUCLA2 | C152Y | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48517506-49070513
| ITM2B, LPAR6, MED4, NUDT15, RB1, RCBTB2, SUCLA2 | | not provided | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562656-48575405
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528543
- GRCh38:
- Chr13:47954408
| SUCLA2 | I318V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547506
- GRCh38:
- Chr13:47973371
| SUCLA2 | S186P | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542783
- GRCh38:
- Chr13:47968648
| SUCLA2 | Y250C | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48517595
- GRCh38:
- Chr13:47943460
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48517533
- GRCh38:
- Chr13:47943398
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Mar 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523178
- GRCh38:
- Chr13:47949043
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571102
- GRCh38:
- Chr13:47996967
| SUCLA2 | Q49H | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547442
- GRCh38:
- Chr13:47973307
| SUCLA2 | P207R | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571040
- GRCh38:
- Chr13:47996905
| SUCLA2 | S70F | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48563103
- GRCh38:
- Chr13:47988968
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, not provided | Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48563101-48563103
- GRCh38:
- Chr13:47988966-47988968
| SUCLA2 | V96del | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575309
- GRCh38:
- Chr13:48001173
| SUCLA2, LOC130009747 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571032
- GRCh38:
- Chr13:47996897
| SUCLA2 | K73E | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575393
- GRCh38:
- Chr13:48001257
| SUCLA2 | M5V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523703
- GRCh38:
- Chr13:47949568
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523152
- GRCh38:
- Chr13:47949017
| SUCLA2 | D414N | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528433-48528437
- GRCh38:
- Chr13:47954298-47954302
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528595
- GRCh38:
- Chr13:47954460
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528384
- GRCh38:
- Chr13:47954249
| SUCLA2 | D333G | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Pathogenic/Likely pathogenic
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48575385
- GRCh38:
- Chr13:48001249
| SUCLA2 | Y7* | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Pathogenic
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523174
- GRCh38:
- Chr13:47949039
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48517592
- GRCh38:
- Chr13:47943457
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542712
- GRCh38:
- Chr13:47968577
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528706
- GRCh38:
- Chr13:47954571
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575352
- GRCh38:
- Chr13:48001216
| LOC130009747, SUCLA2 | N18K | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528605
- GRCh38:
- Chr13:47954470
| SUCLA2 | E297G | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528283
- GRCh38:
- Chr13:47954148
| SUCLA2 | D367Y | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562716
- GRCh38:
- Chr13:47988581
| SUCLA2 | R165K | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547493
- GRCh38:
- Chr13:47973358
| SUCLA2 | V190G | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542722
- GRCh38:
- Chr13:47968587
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575310
- GRCh38:
- Chr13:48001174
| LOC130009747, SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571046
- GRCh38:
- Chr13:47996911
| SUCLA2 | G68V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562819
- GRCh38:
- Chr13:47988684
| SUCLA2 | V131F | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523610
- GRCh38:
- Chr13:47949475
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48563102
- GRCh38:
- Chr13:47988967
| SUCLA2 | V96M | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547383
- GRCh38:
- Chr13:47973248
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523141
- GRCh38:
- Chr13:47949006
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48563133
- GRCh38:
- Chr13:47988998
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575374
- GRCh38:
- Chr13:48001238
| SUCLA2 | V11A | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48563136
- GRCh38:
- Chr13:47989001
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48563124
- GRCh38:
- Chr13:47988989
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547385
- GRCh38:
- Chr13:47973250
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48570962
- GRCh38:
- Chr13:47996827
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542880
- GRCh38:
- Chr13:47968745
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542720
- GRCh38:
- Chr13:47968585
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562744
- GRCh38:
- Chr13:47988609
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528667
- GRCh38:
- Chr13:47954532
| SUCLA2 | N276K | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523172
- GRCh38:
- Chr13:47949037
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528295
- GRCh38:
- Chr13:47954160
| SUCLA2 | L363V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48570973
- GRCh38:
- Chr13:47996838
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528268
- GRCh38:
- Chr13:47954133
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562773
- GRCh38:
- Chr13:47988638
| SUCLA2 | G146E | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523103
- GRCh38:
- Chr13:47948968
| SUCLA2 | C430S | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528256
- GRCh38:
- Chr13:47954121
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528535
- GRCh38:
- Chr13:47954400
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547513-48547515
- GRCh38:
- Chr13:47973378-47973380
| SUCLA2 | I183del | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571044
- GRCh38:
- Chr13:47996909
| SUCLA2 | V69F | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528542
- GRCh38:
- Chr13:47954407
| SUCLA2 | I318T | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575378
- GRCh38:
- Chr13:48001242
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542875
- GRCh38:
- Chr13:47968740
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542833
- GRCh38:
- Chr13:47968698
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575337
- GRCh38:
- Chr13:48001201
| LOC130009747, SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528327
- GRCh38:
- Chr13:47954192
| SUCLA2 | A352V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528437
- GRCh38:
- Chr13:47954302
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571127
- GRCh38:
- Chr13:47996992
| SUCLA2 | H41R | Inborn genetic diseases, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48571084
- GRCh38:
- Chr13:47996949
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571068
- GRCh38:
- Chr13:47996933
| SUCLA2 | M61V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542812
- GRCh38:
- Chr13:47968677
| SUCLA2 | M240I | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523078-48523079
- GRCh38:
- Chr13:47948943-47948944
| SUCLA2 | R438N | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562844-48562845
- GRCh38:
- Chr13:47988709-47988710
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Oct 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528393
- GRCh38:
- Chr13:47954258
| SUCLA2 | A330V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575320
- GRCh38:
- Chr13:48001184
| LOC130009747, SUCLA2 | A29D | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542843
- GRCh38:
- Chr13:47968708
| SUCLA2 | P230L | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562750
- GRCh38:
- Chr13:47988615
| SUCLA2 | Q154E | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528638
- GRCh38:
- Chr13:47954503
| SUCLA2 | K286R | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528430
- GRCh38:
- Chr13:47954295
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528555
- GRCh38:
- Chr13:47954420
| SUCLA2 | L314F | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48542811
- GRCh38:
- Chr13:47968676
| SUCLA2 | V241I | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575299
- GRCh38:
- Chr13:48001163
| LOC130009747, SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571082
- GRCh38:
- Chr13:47996947
| SUCLA2 | H56R | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523179
- GRCh38:
- Chr13:47949044
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575338
- GRCh38:
- Chr13:48001202
| LOC130009747, SUCLA2 | T23M | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48571171
- GRCh38:
- Chr13:47997036
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528336
- GRCh38:
- Chr13:47954201
| SUCLA2 | G349V | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48562776
- GRCh38:
- Chr13:47988641
| SUCLA2 | T145M | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48563027
- GRCh38:
- Chr13:47988892
| SUCLA2 | I121L | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48517571
- GRCh38:
- Chr13:47943436
| SUCLA2 | L443F | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48547481
- GRCh38:
- Chr13:47973346
| SUCLA2 | D194G | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, not provided | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48571168
- GRCh38:
- Chr13:47997033
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523621
- GRCh38:
- Chr13:47949486
| SUCLA2 | Q409* | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr13:48547386
- GRCh38:
- Chr13:47973251
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jan 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48570981
- GRCh38:
- Chr13:47996846
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48523129
- GRCh38:
- Chr13:47948994
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48528425
- GRCh38:
- Chr13:47954290
| SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:48575367
- GRCh38:
- Chr13:48001231
| LOC130009747, SUCLA2 | | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Likely benign
(Jun 3, 2022) | criteria provided, single submitter |