| - GRCh37:
- Chr3:180703765
- GRCh38:
- Chr3:180985977
| DNAJC19 | K52E, K77E | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Oct 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180332709-180707390
| FXR1, CCDC39, DNAJC19 | | 3-methylglutaconic aciduria type 5 | Pathogenic
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704737
- GRCh38:
- Chr3:180986949
| DNAJC19 | G43D, G68D | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702447
- GRCh38:
- Chr3:180984659
| DNAJC19 | E111A, E86A | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180707389
- GRCh38:
- Chr3:180989601
| DNAJC19 | M1T | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704795
- GRCh38:
- Chr3:180987007
| DNAJC19 | Y24H, Y49H | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702483-180702484
- GRCh38:
- Chr3:180984695-180984696
| DNAJC19 | I74fs, I99fs | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702448
- GRCh38:
- Chr3:180984660
| DNAJC19 | E111K, E86K | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702502
- GRCh38:
- Chr3:180984714
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180706017
- GRCh38:
- Chr3:180988229
| DNAJC19 | A2T | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705820
- GRCh38:
- Chr3:180988032
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705814-180705819
- GRCh38:
- Chr3:180988026-180988031
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703744
- GRCh38:
- Chr3:180985956
| DNAJC19 | R59*, R84* | 3-methylglutaconic aciduria type 5 | Pathogenic
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704814
- GRCh38:
- Chr3:180987026
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704804
- GRCh38:
- Chr3:180987016
| DNAJC19 | S21G, S46G | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705876
- GRCh38:
- Chr3:180988088
| DNAJC19 | V22I | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702463
- GRCh38:
- Chr3:180984675
| DNAJC19 | A106T, A81T | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705891
- GRCh38:
- Chr3:180988103
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705980
- GRCh38:
- Chr3:180988192
| DNAJC19 | A14V | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703768
- GRCh38:
- Chr3:180985980
| DNAJC19 | G51R, G76R | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703795-180703798
- GRCh38:
- Chr3:180986007-180986010
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703748
- GRCh38:
- Chr3:180985960
| DNAJC19 | H82Q, H57Q | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705956
- GRCh38:
- Chr3:180988168
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705856
- GRCh38:
- Chr3:180988068
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703777
- GRCh38:
- Chr3:180985989
| DNAJC19 | A48T, A73T | 3-methylglutaconic aciduria type 5, Inborn genetic diseases, not specified
| Uncertain significance
(Feb 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180704742
- GRCh38:
- Chr3:180986954
| DNAJC19 | I41M, I66M | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703707-180703710
- GRCh38:
- Chr3:180985919-180985922
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702518-180702519
- GRCh38:
- Chr3:180984730-180984731
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703699
- GRCh38:
- Chr3:180985911
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704712
- GRCh38:
- Chr3:180986924
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704790
- GRCh38:
- Chr3:180987002
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702503
- GRCh38:
- Chr3:180984715
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703695
- GRCh38:
- Chr3:180985907
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Oct 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180707375
- GRCh38:
- Chr3:180989587
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Nov 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705946
- GRCh38:
- Chr3:180988158
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702431
- GRCh38:
- Chr3:180984643
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703797-180703798
- GRCh38:
- Chr3:180986009-180986010
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705877
- GRCh38:
- Chr3:180988089
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704720
- GRCh38:
- Chr3:180986932
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705800
- GRCh38:
- Chr3:180988012
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(May 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703801
- GRCh38:
- Chr3:180986013
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703803
- GRCh38:
- Chr3:180986015
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702491
- GRCh38:
- Chr3:180984703
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703698
- GRCh38:
- Chr3:180985910
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702512-180702513
- GRCh38:
- Chr3:180984724-180984725
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705867
- GRCh38:
- Chr3:180988079
| DNAJC19 | A25T | Inborn genetic diseases, 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180702453
- GRCh38:
- Chr3:180984665
| DNAJC19 | L84S, L109S | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704737
- GRCh38:
- Chr3:180986949
| DNAJC19 | G43V, G68V | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702448
- GRCh38:
- Chr3:180984660
| DNAJC19 | E111Q, E86Q | not specified, not provided, 3-methylglutaconic aciduria type 5
| Conflicting interpretations of pathogenicity
(Mar 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:180705805
- GRCh38:
- Chr3:180988017
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704798
- GRCh38:
- Chr3:180987010
| DNAJC19 | G23S, G48S | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704738
- GRCh38:
- Chr3:180986950
| DNAJC19 | G43S, G68S | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180707368-180707390
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Pathogenic
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703709
- GRCh38:
- Chr3:180985921
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703773
- GRCh38:
- Chr3:180985985
| DNAJC19 | N74S, N49S | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704773
- GRCh38:
- Chr3:180986985
| DNAJC19 | P31H, P56H | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703713
- GRCh38:
- Chr3:180985925
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702454
- GRCh38:
- Chr3:180984666
| DNAJC19 | L109V, L84V | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705857
- GRCh38:
- Chr3:180988069
| DNAJC19 | H28R, H3R | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Oct 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705961
- GRCh38:
- Chr3:180988173
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705965
- GRCh38:
- Chr3:180988177
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely pathogenic
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705877
- GRCh38:
- Chr3:180988089
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely pathogenic
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705877-180705878
- GRCh38:
- Chr3:180988089-180988090
| DNAJC19 | Y21* | 3-methylglutaconic aciduria type 5 | Pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180705835
- GRCh38:
- Chr3:180988047
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702479
- GRCh38:
- Chr3:180984691
| DNAJC19 | | not provided, 3-methylglutaconic aciduria type 5 | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180705804
- GRCh38:
- Chr3:180988016
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Jun 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702431
- GRCh38:
- Chr3:180984643
| DNAJC19 | K116fs, K91fs | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702435
- GRCh38:
- Chr3:180984647
| DNAJC19 | K115R, K90R | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703735
- GRCh38:
- Chr3:180985947
| DNAJC19 | L62F, L87F | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180702484
- GRCh38:
- Chr3:180984696
| DNAJC19 | I74V, I99V | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180704782
- GRCh38:
- Chr3:180986994
| DNAJC19 | G28E, G53E | 3-methylglutaconic aciduria type 5 | Likely pathogenic
(Jun 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr3:180705970
- GRCh38:
- Chr3:180988182
| DNAJC19 | F17fs | 3-methylglutaconic aciduria type 5 | Pathogenic
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705877
- GRCh38:
- Chr3:180988089
| DNAJC19 | Y21* | 3-methylglutaconic aciduria type 5 | Pathogenic
(Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705989
- GRCh38:
- Chr3:180988201
| DNAJC19 | T11I | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703711-180703712
- GRCh38:
- Chr3:180985923-180985924
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Likely benign
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180703791
- GRCh38:
- Chr3:180986003
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Benign
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180707390
- GRCh38:
- Chr3:180989602
| DNAJC19 | M1V | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180707372
- GRCh38:
- Chr3:180989584
| DNAJC19 | | 3-methylglutaconic aciduria type 5, not specified | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180705881
- GRCh38:
- Chr3:180988093
| DNAJC19 | R20H | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180705796
- GRCh38:
- Chr3:180988008
| DNAJC19 | | not provided, 3-methylglutaconic aciduria type 5 | Likely benign
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180702231-180702234
- GRCh38:
- Chr3:180984443-180984446
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180701940
- GRCh38:
- Chr3:180984152
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180701884-180701885
- GRCh38:
- Chr3:180984096-180984097
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:180706018
- GRCh38:
- Chr3:180988230
| DNAJC19 | | not provided, 3-methylglutaconic aciduria type 5 | Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180704758
- GRCh38:
- Chr3:180986970
| DNAJC19 | R61Q, R36Q | Inborn genetic diseases, 3-methylglutaconic aciduria type 5, not provided
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:180704759
- GRCh38:
- Chr3:180986971
| DNAJC19 | R61W, R36W | Inborn genetic diseases, not provided, 3-methylglutaconic aciduria type 5
| Conflicting interpretations of pathogenicity
(May 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:180702510
- GRCh38:
- Chr3:180984722
| DNAJC19 | | not specified, 3-methylglutaconic aciduria type 5 | Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180702494
- GRCh38:
- Chr3:180984706
| DNAJC19 | | not specified, not provided, 3-methylglutaconic aciduria type 5
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180705871
- GRCh38:
- Chr3:180988083
| DNAJC19 | | not specified, not provided, 3-methylglutaconic aciduria type 5
| Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:180702479
- GRCh38:
- Chr3:180984691
| DNAJC19 | A101fs, A76fs | 3-methylglutaconic aciduria type 5 | Pathogenic
(Oct 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:180704811
- GRCh38:
- Chr3:180987023
| DNAJC19 | | 3-methylglutaconic aciduria type 5 | Pathogenic
(Oct 27, 2022) | criteria provided, single submitter |