| - GRCh37:
- Chr6:49409559
- GRCh38:
- Chr6:49441846
| MMUT | I601fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49399514
- GRCh38:
- Chr6:49431801
| MMUT | R727Q | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425753
- GRCh38:
- Chr6:49458040
| MMUT | S135L | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49412406
- GRCh38:
- Chr6:49444693
| MMUT | A541V | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:49419349
- GRCh38:
- Chr6:49451636
| MMUT | N388H | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49415417-49415418
- GRCh38:
- Chr6:49447704-49447705
| MMUT | V510fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49412437-49412438
- GRCh38:
- Chr6:49444724-49444725
| MMUT | E531fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49423941
- GRCh38:
- Chr6:49456228
| MMUT | K255* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425646
- GRCh38:
- Chr6:49457933
| MMUT | K171* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49409638-49409639
- GRCh38:
- Chr6:49441925-49441926
| MMUT | E575fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49421406
- GRCh38:
- Chr6:49453693
| MMUT | R326fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49419339-49419340
- GRCh38:
- Chr6:49451626-49451627
| MMUT | D391fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49415474
- GRCh38:
- Chr6:49447761
| MMUT | N490fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Feb 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49419419
- GRCh38:
- Chr6:49451706
| MMUT | Y364* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49408032
- GRCh38:
- Chr6:49440319
| MMUT | P615T | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Pathogenic
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421482
- GRCh38:
- Chr6:49453769
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Likely benign
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421483
- GRCh38:
- Chr6:49453770
| MMUT | | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49407902
- GRCh38:
- Chr6:49440189
| MMUT | | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Benign/Likely benign
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49416516
- GRCh38:
- Chr6:49448803
| MMUT | | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49403153
- GRCh38:
- Chr6:49435440
| MMUT | | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely benign
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49419439
- GRCh38:
- Chr6:49451726
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49412421
- GRCh38:
- Chr6:49444708
| MMUT | A536V | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49425612
- GRCh38:
- Chr6:49457899
| MMUT | M182R | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(May 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49403323
- GRCh38:
- Chr6:49435610
| MMUT | V657A | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49408047
- GRCh38:
- Chr6:49440334
| MMUT | R610C | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49425406
- GRCh38:
- Chr6:49457693
| MMUT | K251* | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic/Likely pathogenic
(Jan 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49426821
- GRCh38:
- Chr6:49459108
| MMUT | N120S | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49416558
- GRCh38:
- Chr6:49448845
| MMUT | A472V | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49419352
- GRCh38:
- Chr6:49451639
| MMUT | T387P | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Pathogenic/Likely pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421469
- GRCh38:
- Chr6:49453756
| MMUT | | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49412358
- GRCh38:
- Chr6:49444645
| MMUT | R557Q | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49416552
- GRCh38:
- Chr6:49448839
| MMUT | R474P | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49423864-49423865
- GRCh38:
- Chr6:49456151-49456152
| MMUT | L281fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Pathogenic/Likely pathogenic
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49425562
- GRCh38:
- Chr6:49457849
| MMUT | F199V | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:49399481
- GRCh38:
- Chr6:49431768
| MMUT | D738G | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425772
- GRCh38:
- Chr6:49458059
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49419271
- GRCh38:
- Chr6:49451558
| MMUT | E414* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic
(Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49403297
- GRCh38:
- Chr6:49435584
| MMUT | V666M | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425424
- GRCh38:
- Chr6:49457711
| MMUT | I245V | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49419417
- GRCh38:
- Chr6:49451704
| MMUT | N365S | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49407969
- GRCh38:
- Chr6:49440256
| MMUT | T636A | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421607
- GRCh38:
- Chr6:49453894
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Benign
(Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421579
- GRCh38:
- Chr6:49453866
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Benign
(Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421241
- GRCh38:
- Chr6:49453528
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Benign
(Jun 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49423948
- GRCh38:
- Chr6:49456235
| MMUT | | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49403247
- GRCh38:
- Chr6:49435534
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Likely benign
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49421427
- GRCh38:
- Chr6:49453714
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Likely benign
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49427057
- GRCh38:
- Chr6:49459344
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Likely benign
(Dec 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49425576
- GRCh38:
- Chr6:49457863
| MMUT | P194L | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic/Likely pathogenic
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49427151
- GRCh38:
- Chr6:49459438
| MMUT | L10fs | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic/Likely pathogenic
(Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49403209
- GRCh38:
- Chr6:49435496
| MMUT | P695L | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49426945
- GRCh38:
- Chr6:49459232
| MMUT | M79V | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Feb 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49416538
- GRCh38:
- Chr6:49448825
| MMUT | I479V | Inborn genetic diseases, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Feb 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49425719
- GRCh38:
- Chr6:49458006
| MMUT | Y146* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic
(Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49426953
- GRCh38:
- Chr6:49459240
| MMUT | R76K | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49427019
- GRCh38:
- Chr6:49459306
| MMUT | K54R | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, not provided | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49403206
- GRCh38:
- Chr6:49435493
| MMUT | D696A | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Inborn genetic diseases
| Uncertain significance
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49423919
- GRCh38:
- Chr6:49456206
| MMUT | S262I | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(May 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49419268
- GRCh38:
- Chr6:49451555
| MMUT | E415* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic
(May 4, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49425760
- GRCh38:
- Chr6:49458047
| MMUT | G133* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425756
- GRCh38:
- Chr6:49458043
| MMUT | L134* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(May 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425451
- GRCh38:
- Chr6:49457738
| MMUT | E236* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Nov 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49423917
- GRCh38:
- Chr6:49456204
| MMUT | G263* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49423862
- GRCh38:
- Chr6:49456149
| MMUT | L281* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Mar 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49421447
- GRCh38:
- Chr6:49453734
| MMUT | G312* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(May 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49421394
- GRCh38:
- Chr6:49453681
| MMUT | W329* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49421386
- GRCh38:
- Chr6:49453673
| MMUT | L332* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49419313
- GRCh38:
- Chr6:49451600
| MMUT | K400* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49419224
- GRCh38:
- Chr6:49451511
| MMUT | Y429* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49416625
- GRCh38:
- Chr6:49448912
| MMUT | E450* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49416604
- GRCh38:
- Chr6:49448891
| MMUT | K457* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49412464
- GRCh38:
- Chr6:49444751
| MMUT | K522* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49409600
- GRCh38:
- Chr6:49441887
| MMUT | Y587* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Aug 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49408005
- GRCh38:
- Chr6:49440292
| MMUT | Q624* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Dec 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49423893-49423894
- GRCh38:
- Chr6:49456180-49456181
| MMUT | A271fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:49415499
- GRCh38:
- Chr6:49447786
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:49409574
- GRCh38:
- Chr6:49441861
| MMUT | E596fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49409683
- GRCh38:
- Chr6:49441970
| MMUT | C560R | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49412355
- GRCh38:
- Chr6:49444642
| MMUT | A558V | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49412383
- GRCh38:
- Chr6:49444670
| MMUT | L549fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49412446-49412447
- GRCh38:
- Chr6:49444733-49444734
| MMUT | A528fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49415381
- GRCh38:
- Chr6:49447668
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49419181
- GRCh38:
- Chr6:49451468
| MMUT | K444* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49419276-49419278
- GRCh38:
- Chr6:49451563-49451565
| MMUT | I412del | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49419403-49419404
- GRCh38:
- Chr6:49451690-49451691
| MMUT | T370fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49419409
- GRCh38:
- Chr6:49451696
| MMUT | V368fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49423811
- GRCh38:
- Chr6:49456098
| MMUT | I298N | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49425505
- GRCh38:
- Chr6:49457792
| MMUT | Q218E | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49425710-49425711
- GRCh38:
- Chr6:49457997-49457998
| MMUT | D149fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49425735
- GRCh38:
- Chr6:49458022
| MMUT | A141E | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49427173
- GRCh38:
- Chr6:49459460
| MMUT | R3* | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49427220
- GRCh38:
- Chr6:49459507
| MMUT | | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Likely pathogenic
(Jan 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr6:49426992
- GRCh38:
- Chr6:49459279
| MMUT | T63I | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Apr 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49419293
- GRCh38:
- Chr6:49451580
| MMUT | N407fs | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Pathogenic
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:45935739
- GRCh38:
- Chr11:45914188
| PEX16 | L237R | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Peroxisome biogenesis disorder | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49419250
- GRCh38:
- Chr6:49451537
| MMUT | V421M | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49416573
- GRCh38:
- Chr6:49448860
| MMUT | R467Q | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:49399497-49399498
- GRCh38:
- Chr6:49431784-49431785
| MMUT | V733fs | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:49425735
- GRCh38:
- Chr6:49458022
| MMUT | A141V | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:49409598
- GRCh38:
- Chr6:49441885
| MMUT | R588L | not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |