| - GRCh37:
- Chr5:70892196
- GRCh38:
- Chr5:71596369
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Apr 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr5:70930814
- GRCh38:
- Chr5:71634987
| MCCC2 | A245V, A283V | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jan 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70895488
- GRCh38:
- Chr5:71599661
| MCCC2 | S95F | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70895476-70900305
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70892087-70892211
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Dec 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70930773-70930871
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70808992-70952687
| BDP1, MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898323-70900305
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898323
- GRCh38:
- Chr5:71602496
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70892180
- GRCh38:
- Chr5:71596353
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70927969
- GRCh38:
- Chr5:71632142
| MCCC2 | E216*, E254* | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70939695
- GRCh38:
- Chr5:71643868
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70944905
- GRCh38:
- Chr5:71649078
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952671
- GRCh38:
- Chr5:71656844
| MCCC2 | G559D, G521D | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922501
- GRCh38:
- Chr5:71626674
| MCCC2 | G220E | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898365
- GRCh38:
- Chr5:71602538
| MCCC2 | T139I | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898345
- GRCh38:
- Chr5:71602518
| MCCC2 | M132I | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70930848
- GRCh38:
- Chr5:71635021
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952621
- GRCh38:
- Chr5:71656794
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942096
- GRCh38:
- Chr5:71646269
| MCCC2 | N403T, N365T | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942041
- GRCh38:
- Chr5:71646214
| MCCC2 | T347A, T385A | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70900223
- GRCh38:
- Chr5:71604396
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70930959
- GRCh38:
- Chr5:71635132
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952646
- GRCh38:
- Chr5:71656819
| MCCC2 | A551T, A513T | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898384
- GRCh38:
- Chr5:71602557
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70936919
- GRCh38:
- Chr5:71641092
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883348
- GRCh38:
- Chr5:71587521
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Sep 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70892174
- GRCh38:
- Chr5:71596347
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948583-70948584
- GRCh38:
- Chr5:71652756-71652757
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Benign
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70895538-70895540
- GRCh38:
- Chr5:71599711-71599713
| MCCC2 | E113del | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942088
- GRCh38:
- Chr5:71646261
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70895536
- GRCh38:
- Chr5:71599709
| MCCC2 | N111S | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70939637
- GRCh38:
- Chr5:71643810
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883375
- GRCh38:
- Chr5:71587548
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70944975
- GRCh38:
- Chr5:71649148
| MCCC2 | A423D, A385D | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70939700
- GRCh38:
- Chr5:71643873
| MCCC2 | L338P, L376P | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70928002
- GRCh38:
- Chr5:71632175
| MCCC2 | L265V, L227V | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942037
- GRCh38:
- Chr5:71646210
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883320
- GRCh38:
- Chr5:71587493
| MCCC2 | Y23S | Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:70900190
- GRCh38:
- Chr5:71604363
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945057
- GRCh38:
- Chr5:71649230
| MCCC2 | Y450*, Y412* | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922545
- GRCh38:
- Chr5:71626718
| MCCC2 | K235E | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898371
- GRCh38:
- Chr5:71602544
| MCCC2 | K141R | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases | Uncertain significance
(May 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:70945045
- GRCh38:
- Chr5:71649218
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922597
- GRCh38:
- Chr5:71626770
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922474
- GRCh38:
- Chr5:71626647
| MCCC2 | V211G | 3-methylcrotonyl-CoA carboxylase 2 deficiency, not provided | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:70927957
- GRCh38:
- Chr5:71632130
| MCCC2 | A212T, A250T | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70927939
- GRCh38:
- Chr5:71632112
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948584
- GRCh38:
- Chr5:71652757
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942080
- GRCh38:
- Chr5:71646253
| MCCC2 | L360V, L398V | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883290
- GRCh38:
- Chr5:71587463
| MCCC2 | A13G | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948493
- GRCh38:
- Chr5:71652666
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945073
- GRCh38:
- Chr5:71649246
| MCCC2 | A418P, A456P | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70900254
- GRCh38:
- Chr5:71604427
| MCCC2 | F195L | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948486
- GRCh38:
- Chr5:71652659
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70900215
- GRCh38:
- Chr5:71604388
| MCCC2 | A182T | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883309
- GRCh38:
- Chr5:71587482
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883306
- GRCh38:
- Chr5:71587479
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922494
- GRCh38:
- Chr5:71626667
| MCCC2 | A218S | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70930827
- GRCh38:
- Chr5:71635000
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70895569
- GRCh38:
- Chr5:71599742
| MCCC2 | G122D | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922582
- GRCh38:
- Chr5:71626755
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70900231
- GRCh38:
- Chr5:71604404
| MCCC2 | D187G | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942085
- GRCh38:
- Chr5:71646258
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70946021
- GRCh38:
- Chr5:71650194
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922505
- GRCh38:
- Chr5:71626678
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70892100
- GRCh38:
- Chr5:71596273
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945963
- GRCh38:
- Chr5:71650136
| MCCC2 | V443L, V481L | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70922586
- GRCh38:
- Chr5:71626759
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952633
- GRCh38:
- Chr5:71656806
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948491
- GRCh38:
- Chr5:71652664
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952596
- GRCh38:
- Chr5:71656769
| MCCC2 | P496R, P534R | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883312
- GRCh38:
- Chr5:71587485
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898406
- GRCh38:
- Chr5:71602579
| MCCC2 | Q153K | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883297
- GRCh38:
- Chr5:71587470
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70942034
- GRCh38:
- Chr5:71646207
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70939710
- GRCh38:
- Chr5:71643883
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70888793
- GRCh38:
- Chr5:71592966
| MCCC2 | H57R | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898417
- GRCh38:
- Chr5:71602590
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70892201
- GRCh38:
- Chr5:71596374
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898453
- GRCh38:
- Chr5:71602626
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945078
- GRCh38:
- Chr5:71649251
| MCCC2 | Y457*, Y419* | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945980
- GRCh38:
- Chr5:71650153
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70928018
- GRCh38:
- Chr5:71632191
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952555
- GRCh38:
- Chr5:71656728
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70898416
- GRCh38:
- Chr5:71602589
| MCCC2 | A156V | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely pathogenic
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945993
- GRCh38:
- Chr5:71650166
| MCCC2 | A491T, A453T | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70945011
- GRCh38:
- Chr5:71649184
| MCCC2 | P435R, P397R | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70888775
- GRCh38:
- Chr5:71592948
| MCCC2 | A51V | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70888813
- GRCh38:
- Chr5:71592986
| MCCC2 | K64* | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic/Likely pathogenic
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:70944941
- GRCh38:
- Chr5:71649114
| MCCC2 | E374fs, E412fs | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952650-70952651
- GRCh38:
- Chr5:71656823-71656824
| MCCC2 | I515fs, I553fs | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Pathogenic
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70930854
- GRCh38:
- Chr5:71635027
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70895558
- GRCh38:
- Chr5:71599731
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70939619
- GRCh38:
- Chr5:71643792
| MCCC2 | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70883355
- GRCh38:
- Chr5:71587528
| MCCC2 | P35T | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70952665
- GRCh38:
- Chr5:71656838
| MCCC2 | D519A, D557A | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948500
- GRCh38:
- Chr5:71652673
| MCCC2 | S460F, S498F | Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency, not provided
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:70888799
- GRCh38:
- Chr5:71592972
| MCCC2 | R59Q | 3-methylcrotonyl-CoA carboxylase 2 deficiency | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:70948577
- GRCh38:
- Chr5:71652750
| MCCC2 | A486T, A524T | not specified, 3-methylcrotonyl-CoA carboxylase 2 deficiency | Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |