| - GRCh37:
- ChrX:153642479
- GRCh38:
- ChrX:154414142
| TAFAZZIN | L138V, L156V | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641545-153648084
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647862-153649343
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640181-153775961
| PLXNA3, DNASE1L1, GDI1, SLC10A3, LAGE3, IKBKG, ATP6AP1, FAM50A, FAM3A, UBL4A, TAFAZZIN, G6PD | | not provided, 3-Methylglutaconic aciduria type 2, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
| Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:152014869-155171615
| FAM3A, H2AB3, OPN1MW2, HCFC1, CTAG2, SLC10A3, FLNA, ZNF275, PLXNA3, BRCC3, CMC4, HAUS7, UBL4A, TMEM187, FAM50A, CCNQ, BGN, IRAK1, CLIC2, F8, TMLHE, TAFAZZIN, ZFP92, NAA10, MECP2, SSR4, RPL10, FUNDC2, PNMA6A, SLC6A8, LOC100509091, G6PD, ABCD1, NSDHL, F8A2, LAGE3, PLXNB3, PNCK, PNMA5, CTAG1A, GAB3, PNMA6E, TKTL1, PNMA3, TEX28, IDH3G, OPN1LW, RENBP, RAB39B, MAGEA1, SMIM9, DNASE1L1, EMD, GDI1, VBP1, IKBKG, TREX2, AVPR2, SRPK3, BCAP31, H2AB1, ZNF185, H2AB2, ATP2B3, F8A1, OPN1MW, CTAG1B, L1CAM, ARHGAP4, DKC1, MPP1, F8A3, DUSP9, MTCP1, ATP6AP1, PDZD4 | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, X-linked Emery-Dreifuss muscular dystrophy, Adrenoleukodystrophy, Spastic paraplegia, Creatine transporter deficiency, 3-Methylglutaconic aciduria type 2
| Pathogenic (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641527
- GRCh38:
- ChrX:154413190
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641915
- GRCh38:
- ChrX:154413578
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649252
- GRCh38:
- ChrX:154420913
| TAFAZZIN | R233Q, R249Q, R219Q, R251Q, R263Q, R267Q | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648448
- GRCh38:
- ChrX:154420109
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647875
- GRCh38:
- ChrX:154419536
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640304
- GRCh38:
- ChrX:154411967
| DNASE1L1, TAFAZZIN | A42T | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649049
- GRCh38:
- ChrX:154420710
| TAFAZZIN | R221Q, R237Q, R255Q, R239Q, R251Q, R207Q | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648594
- GRCh38:
- ChrX:154420255
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640558
- GRCh38:
- ChrX:154412221
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640408
- GRCh38:
- ChrX:154412071
| DNASE1L1, TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648591
- GRCh38:
- ChrX:154420252
| TAFAZZIN | | Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2 | Likely benign (Feb 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153641572
- GRCh38:
- ChrX:154413235
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641923
- GRCh38:
- ChrX:154413586
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648441
- GRCh38:
- ChrX:154420102
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647970
- GRCh38:
- ChrX:154419631
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642419
- GRCh38:
- ChrX:154414082
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640222
- GRCh38:
- ChrX:154411885
| DNASE1L1, TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648055
- GRCh38:
- ChrX:154419716
| TAFAZZIN | M155V, M173V, M185V | 3-Methylglutaconic aciduria type 2 | Pathogenic (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647955
- GRCh38:
- ChrX:154419616
| TAFAZZIN | P179fs, P197fs, P149fs | 3-Methylglutaconic aciduria type 2 | Pathogenic (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647868-153647873
- GRCh38:
- ChrX:154419529-154419534
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647879
- GRCh38:
- ChrX:154419540
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642452
- GRCh38:
- ChrX:154414115
| TAFAZZIN | Q147*, Q129* | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648075
- GRCh38:
- ChrX:154419736
| TAFAZZIN | F162fs, F192fs | 3-Methylglutaconic aciduria type 2 | Pathogenic (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648081
- GRCh38:
- ChrX:154419742
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640440
- GRCh38:
- ChrX:154412103
| TAFAZZIN | T61S, T43S | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649002
- GRCh38:
- ChrX:154420663
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640466
- GRCh38:
- ChrX:154412129
| TAFAZZIN | Y51*, Y69* | 3-Methylglutaconic aciduria type 2 | Pathogenic (Apr 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153640303
- GRCh38:
- ChrX:154411966
| DNASE1L1, TAFAZZIN | A42fs | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642446
- GRCh38:
- ChrX:154414109
| TAFAZZIN | F127V, F145V | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648081-153648094
- GRCh38:
- ChrX:154419742-154419755
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648618
- GRCh38:
- ChrX:154420279
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648537
- GRCh38:
- ChrX:154420198
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642421
- GRCh38:
- ChrX:154414084
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640445
- GRCh38:
- ChrX:154412108
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642544
- GRCh38:
- ChrX:154414207
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640181
- GRCh38:
- ChrX:154411844
| DNASE1L1, TAFAZZIN | M1V | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640458
- GRCh38:
- ChrX:154412121
| TAFAZZIN | V49L, V67L | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642537
- GRCh38:
- ChrX:154414200
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640541
- GRCh38:
- ChrX:154412204
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640492
- GRCh38:
- ChrX:154412155
| TAFAZZIN | A60V, A78V | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648562
- GRCh38:
- ChrX:154420223
| TAFAZZIN | V220I, V224I, V206I, V208I, V176I, V190I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (May 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647945
- GRCh38:
- ChrX:154419606
| TAFAZZIN | V175G, V193G, V163G, V145G | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648074
- GRCh38:
- ChrX:154419735
| TAFAZZIN | R161P, R179P, R191P | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640272
- GRCh38:
- ChrX:154411935
| DNASE1L1, TAFAZZIN | Y31C | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649024
- GRCh38:
- ChrX:154420685
| TAFAZZIN | F199I, F231I, F213I, F229I, F247I, F243I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649004
- GRCh38:
- ChrX:154420665
| TAFAZZIN | T192I, T222I, T224I, T206I, T236I, T240I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640430
- GRCh38:
- ChrX:154412093
| DNASE1L1, TAFAZZIN | M39I, M57I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640249
- GRCh38:
- ChrX:154411912
| DNASE1L1, TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641526
- GRCh38:
- ChrX:154413189
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640183
- GRCh38:
- ChrX:154411846
| TAFAZZIN, DNASE1L1 | M1I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649319
- GRCh38:
- ChrX:154420980
| TAFAZZIN | H241Q, H255Q, H273Q, H285Q, H289Q, H271Q | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648051
- GRCh38:
- ChrX:154419712
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641805
- GRCh38:
- ChrX:154413468
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648622
- GRCh38:
- ChrX:154420283
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647869
- GRCh38:
- ChrX:154419530
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648400
- GRCh38:
- ChrX:154420061
| TAFAZZIN | L191I, L209I, L175I, L193I, L161I, L205I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648420
- GRCh38:
- ChrX:154420081
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641533
- GRCh38:
- ChrX:154413196
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647867
- GRCh38:
- ChrX:154419528
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647863
- GRCh38:
- ChrX:154419524
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642537
- GRCh38:
- ChrX:154414200
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641842
- GRCh38:
- ChrX:154413505
| TAFAZZIN | C103Y, C121Y | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Oct 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647864
- GRCh38:
- ChrX:154419525
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649310
- GRCh38:
- ChrX:154420971
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648440
- GRCh38:
- ChrX:154420101
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641906
- GRCh38:
- ChrX:154413569
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647962
- GRCh38:
- ChrX:154419623
| TAFAZZIN | G169R, G199R, G151R, G181R | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640495
- GRCh38:
- ChrX:154412158
| TAFAZZIN | T61M, T79M | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641527
- GRCh38:
- ChrX:154413190
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640549
- GRCh38:
- ChrX:154412212
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Pathogenic (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649265
- GRCh38:
- ChrX:154420926
| TAFAZZIN | | Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2 | Likely benign (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153649305-153649312
- GRCh38:
- ChrX:154420966-154420973
| TAFAZZIN | E252fs, E282fs, E238fs, E268fs, E286fs | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647981-153647982
- GRCh38:
- ChrX:154419642-154419643
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jun 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648370
- GRCh38:
- ChrX:154420031
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640426
- GRCh38:
- ChrX:154412089
| DNASE1L1, TAFAZZIN | Y56C, Y38C | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649276
- GRCh38:
- ChrX:154420937
| TAFAZZIN | Q271P, Q275P, Q227P, Q241P, Q257P, Q259P | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647868
- GRCh38:
- ChrX:154419529
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648362
- GRCh38:
- ChrX:154420023
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648362
- GRCh38:
- ChrX:154420023
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640280
- GRCh38:
- ChrX:154411943
| DNASE1L1, TAFAZZIN | F34I | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641594
- GRCh38:
- ChrX:154413257
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641882
- GRCh38:
- ChrX:154413545
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640502
- GRCh38:
- ChrX:154412165
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640499
- GRCh38:
- ChrX:154412162
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648038
- GRCh38:
- ChrX:154419699
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Jan 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642496
- GRCh38:
- ChrX:154414159
| TAFAZZIN | H143Q, H161Q | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648372
- GRCh38:
- ChrX:154420033
| TAFAZZIN | I166fs, I200fs, I152fs, I196fs, I182fs | 3-Methylglutaconic aciduria type 2 | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640198
- GRCh38:
- ChrX:154411861
| DNASE1L1, TAFAZZIN | K6N | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641922
- GRCh38:
- ChrX:154413585
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641555
- GRCh38:
- ChrX:154413218
| TAFAZZIN | L102F, L84F | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640442
- GRCh38:
- ChrX:154412105
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153642434
- GRCh38:
- ChrX:154414097
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648445
- GRCh38:
- ChrX:154420106
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely benign (Dec 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648398
- GRCh38:
- ChrX:154420059
| TAFAZZIN | H192R, H190R, H204R, H174R, H208R, H160R | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640462
- GRCh38:
- ChrX:154412125
| TAFAZZIN | L50Q, L68Q | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 28, 2019) | criteria provided, single submitter |