| - GRCh37:
- ChrX:153648090
- GRCh38:
- ChrX:154419751
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640553
- GRCh38:
- ChrX:154412216
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640549
- GRCh38:
- ChrX:154412212
| TAFAZZIN | W79*, W97* | 3-Methylglutaconic aciduria type 2 | Pathogenic (Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648604
- GRCh38:
- ChrX:154420265
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Jul 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640484
- GRCh38:
- ChrX:154412147
| TAFAZZIN | G58fs, G76fs | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641550
- GRCh38:
- ChrX:154413213
| TAFAZZIN | L100P, L82P | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649043-153649044
- GRCh38:
- ChrX:154420704-154420705
| TAFAZZIN | E206fs, E220fs, E236fs, E238fs, E250fs, E254fs | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641836
- GRCh38:
- ChrX:154413499
| TAFAZZIN | D101V, D119V | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641585
- GRCh38:
- ChrX:154413248
| TAFAZZIN | R112G, R94G | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Jul 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640535
- GRCh38:
- ChrX:154412198
| TAFAZZIN | D74E, D92E | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Sep 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640524
- GRCh38:
- ChrX:154412187
| TAFAZZIN | S71P, S89P | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jul 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641828
- GRCh38:
- ChrX:154413491
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648396
- GRCh38:
- ChrX:154420057
| TAFAZZIN | C159*, C173*, C189*, C191*, C203*, C207* | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640476
- GRCh38:
- ChrX:154412139
| TAFAZZIN | E55*, E73* | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640436
- GRCh38:
- ChrX:154412099
| DNASE1L1, TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640231
- GRCh38:
- ChrX:154411894
| DNASE1L1, TAFAZZIN | W17* | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649045
- GRCh38:
- ChrX:154420706
| TAFAZZIN | E206*, E220*, E236*, E238*, E250*, E254* | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641819
- GRCh38:
- ChrX:154413482
| TAFAZZIN | W113*, W95* | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647902
- GRCh38:
- ChrX:154419563
| TAFAZZIN | G131R, G149R, G161R, G179R | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647954
- GRCh38:
- ChrX:154419615
| TAFAZZIN | F148S, F166S, F178S, F196S | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jun 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648413
- GRCh38:
- ChrX:154420074
| TAFAZZIN | I165N, I179N, I195N, I197N, I209N, I213N | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153649330-153649331
- GRCh38:
- ChrX:154420991-154420992
| TAFAZZIN | R248fs, R262fs, R278fs, R280fs, R292fs, R296fs | 3-Methylglutaconic aciduria type 2 | Pathogenic (Aug 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640233-153640234
- GRCh38:
- ChrX:154411896-154411897
| DNASE1L1, TAFAZZIN | L19fs | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Jul 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641844
- GRCh38:
- ChrX:154413507
| TAFAZZIN | F104V, F122V | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647918
- GRCh38:
- ChrX:154419579
| TAFAZZIN | L136*, L154*, L166*, L184* | 3-Methylglutaconic aciduria type 2 | Pathogenic (Aug 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641859-153641864
- GRCh38:
- ChrX:154413522-154413527
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640462
- GRCh38:
- ChrX:154412125
| TAFAZZIN | L50P, L68P | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jun 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648422
- GRCh38:
- ChrX:154420083
| TAFAZZIN | L168P, L182P, L198P, L200P, L212P, L216P | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Aug 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648996-153648997
- GRCh38:
- ChrX:154420657-154420658
| TAFAZZIN | I191fs, I205fs, I221fs, I223fs, I235fs, I239fs | 3-Methylglutaconic aciduria type 2 | Pathogenic (Jul 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641904
- GRCh38:
- ChrX:154413567
| TAFAZZIN | G124R, G142R | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Jul 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153641883
- GRCh38:
- ChrX:154413546
| TAFAZZIN | K117E, K135E | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jul 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153640474
- GRCh38:
- ChrX:154412137
| TAFAZZIN | I54N, I72N | 3-Methylglutaconic aciduria type 2 | Uncertain significance (Jul 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153647963
- GRCh38:
- ChrX:154419624
| TAFAZZIN | | 3-Methylglutaconic aciduria type 2 | Likely pathogenic (Aug 4, 2020) | criteria provided, single submitter |
| - 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
| ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A | | not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, 3-Methylglutaconic aciduria type 2
| 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 | Conflicting interpretations of pathogenicity (Apr 4, 2022) | criteria provided, conflicting interpretations |
| - 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 |