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Items: 1 to 100 of 323

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:153648090
GRCh38:
ChrX:154419751
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 13, 2020)
criteria provided, single submitter
2.
GRCh37:
ChrX:153640553
GRCh38:
ChrX:154412216
TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Apr 18, 2023)
criteria provided, single submitter
3.
GRCh37:
ChrX:153640549
GRCh38:
ChrX:154412212
TAFAZZINW79*, W97*3-Methylglutaconic aciduria type 2Pathogenic
(Jul 22, 2020)
criteria provided, single submitter
4.
GRCh37:
ChrX:153648604
GRCh38:
ChrX:154420265
TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Jul 23, 2020)
criteria provided, single submitter
5.
GRCh37:
ChrX:153640484
GRCh38:
ChrX:154412147
TAFAZZING58fs, G76fs3-Methylglutaconic aciduria type 2Likely pathogenic
(Apr 26, 2021)
criteria provided, single submitter
6.
GRCh37:
ChrX:153641550
GRCh38:
ChrX:154413213
TAFAZZINL100P, L82P3-Methylglutaconic aciduria type 2Uncertain significance
(Apr 26, 2021)
criteria provided, single submitter
7.
GRCh37:
ChrX:153649043-153649044
GRCh38:
ChrX:154420704-154420705
TAFAZZINE206fs, E220fs, E236fs, E238fs, E250fs, E254fs3-Methylglutaconic aciduria type 2Likely pathogenic
(Apr 26, 2021)
criteria provided, single submitter
8.
GRCh37:
ChrX:153641836
GRCh38:
ChrX:154413499
TAFAZZIND101V, D119V3-Methylglutaconic aciduria type 2Uncertain significance
(Apr 26, 2021)
criteria provided, single submitter
9.
GRCh37:
ChrX:153641585
GRCh38:
ChrX:154413248
TAFAZZINR112G, R94G3-Methylglutaconic aciduria type 2Likely pathogenic
(Jul 8, 2020)
criteria provided, single submitter
10.
GRCh37:
ChrX:153640535
GRCh38:
ChrX:154412198
TAFAZZIND74E, D92E3-Methylglutaconic aciduria type 2Likely pathogenic
(Sep 8, 2020)
criteria provided, single submitter
11.
GRCh37:
ChrX:153640524
GRCh38:
ChrX:154412187
TAFAZZINS71P, S89P3-Methylglutaconic aciduria type 2Uncertain significance
(Jul 24, 2020)
criteria provided, single submitter
12.
GRCh37:
ChrX:153641828
GRCh38:
ChrX:154413491
TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 14, 2020)
criteria provided, single submitter
13.
GRCh37:
ChrX:153648396
GRCh38:
ChrX:154420057
TAFAZZINC159*, C173*, C189*, C191*, C203*, C207*3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 7, 2020)
criteria provided, single submitter
14.
GRCh37:
ChrX:153640476
GRCh38:
ChrX:154412139
TAFAZZINE55*, E73*3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 7, 2020)
criteria provided, single submitter
15.
GRCh37:
ChrX:153640436
GRCh38:
ChrX:154412099
DNASE1L1, TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 7, 2020)
criteria provided, single submitter
16.
GRCh37:
ChrX:153640231
GRCh38:
ChrX:154411894
DNASE1L1, TAFAZZINW17*3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 13, 2020)
criteria provided, single submitter
17.
GRCh37:
ChrX:153649045
GRCh38:
ChrX:154420706
TAFAZZINE206*, E220*, E236*, E238*, E250*, E254*3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 14, 2020)
criteria provided, single submitter
18.
GRCh37:
ChrX:153641819
GRCh38:
ChrX:154413482
TAFAZZINW113*, W95*3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 24, 2020)
criteria provided, single submitter
19.
GRCh37:
ChrX:153647902
GRCh38:
ChrX:154419563
TAFAZZING131R, G149R, G161R, G179R3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 24, 2020)
criteria provided, single submitter
20.
GRCh37:
ChrX:153647954
GRCh38:
ChrX:154419615
TAFAZZINF148S, F166S, F178S, F196S3-Methylglutaconic aciduria type 2Uncertain significance
(Jun 24, 2020)
criteria provided, single submitter
21.
GRCh37:
ChrX:153648413
GRCh38:
ChrX:154420074
TAFAZZINI165N, I179N, I195N, I197N, I209N, I213N3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 6, 2020)
criteria provided, single submitter
22.
GRCh37:
ChrX:153649330-153649331
GRCh38:
ChrX:154420991-154420992
TAFAZZINR248fs, R262fs, R278fs, R280fs, R292fs, R296fs3-Methylglutaconic aciduria type 2Pathogenic
(Aug 7, 2020)
criteria provided, single submitter
23.
GRCh37:
ChrX:153640233-153640234
GRCh38:
ChrX:154411896-154411897
DNASE1L1, TAFAZZINL19fs3-Methylglutaconic aciduria type 2Likely pathogenic
(Jul 9, 2020)
criteria provided, single submitter
24.
GRCh37:
ChrX:153641844
GRCh38:
ChrX:154413507
TAFAZZINF104V, F122V3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 5, 2020)
criteria provided, single submitter
25.
GRCh37:
ChrX:153647918
GRCh38:
ChrX:154419579
TAFAZZINL136*, L154*, L166*, L184*3-Methylglutaconic aciduria type 2Pathogenic
(Aug 5, 2020)
criteria provided, single submitter
26.
GRCh37:
ChrX:153641859-153641864
GRCh38:
ChrX:154413522-154413527
TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Jul 22, 2020)
criteria provided, single submitter
27.
GRCh37:
ChrX:153640462
GRCh38:
ChrX:154412125
TAFAZZINL50P, L68P3-Methylglutaconic aciduria type 2Uncertain significance
(Jun 24, 2020)
criteria provided, single submitter
28.
GRCh37:
ChrX:153648422
GRCh38:
ChrX:154420083
TAFAZZINL168P, L182P, L198P, L200P, L212P, L216P3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 11, 2020)
criteria provided, single submitter
29.
GRCh37:
ChrX:153648996-153648997
GRCh38:
ChrX:154420657-154420658
TAFAZZINI191fs, I205fs, I221fs, I223fs, I235fs, I239fs3-Methylglutaconic aciduria type 2Pathogenic
(Jul 24, 2020)
criteria provided, single submitter
30.
GRCh37:
ChrX:153641904
GRCh38:
ChrX:154413567
TAFAZZING124R, G142R3-Methylglutaconic aciduria type 2Likely pathogenic
(Jul 24, 2020)
criteria provided, single submitter
31.
GRCh37:
ChrX:153641883
GRCh38:
ChrX:154413546
TAFAZZINK117E, K135E3-Methylglutaconic aciduria type 2Uncertain significance
(Jul 24, 2020)
criteria provided, single submitter
32.
GRCh37:
ChrX:153640474
GRCh38:
ChrX:154412137
TAFAZZINI54N, I72N3-Methylglutaconic aciduria type 2Uncertain significance
(Jul 24, 2020)
criteria provided, single submitter
33.
GRCh37:
ChrX:153647963
GRCh38:
ChrX:154419624
TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Aug 4, 2020)
criteria provided, single submitter
34.
GRCh37:
ChrX:153642479
GRCh38:
ChrX:154414142
TAFAZZINL138V, L156V3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 6, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrX:153641545-153648084
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrX:153647862-153649343
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
37.
GRCh37:
ChrX:153640181-153775961
not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, 3-Methylglutaconic aciduria type 2
Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrX:152014869-155171615
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
39.
GRCh37:
ChrX:153641527
GRCh38:
ChrX:154413190
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Oct 21, 2022)
criteria provided, single submitter
40.
GRCh37:
ChrX:153641915
GRCh38:
ChrX:154413578
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Oct 7, 2022)
criteria provided, single submitter
41.
GRCh37:
ChrX:153649252
GRCh38:
ChrX:154420913
TAFAZZINR233Q, R249Q, R219Q, R251Q, R263Q, R267Q3-Methylglutaconic aciduria type 2Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
42.
GRCh37:
ChrX:153648448
GRCh38:
ChrX:154420109
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Jul 29, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:153647875
GRCh38:
ChrX:154419536
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Aug 19, 2022)
criteria provided, single submitter
44.
GRCh37:
ChrX:153640304
GRCh38:
ChrX:154411967
DNASE1L1, TAFAZZINA42T3-Methylglutaconic aciduria type 2Likely benign
(Oct 13, 2022)
criteria provided, single submitter
45.
GRCh37:
ChrX:153649049
GRCh38:
ChrX:154420710
TAFAZZINR221Q, R237Q, R255Q, R239Q, R251Q, R207Q3-Methylglutaconic aciduria type 2Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
46.
GRCh37:
ChrX:153648594
GRCh38:
ChrX:154420255
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Mar 21, 2022)
criteria provided, single submitter
47.
GRCh37:
ChrX:153640558
GRCh38:
ChrX:154412221
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(May 26, 2022)
criteria provided, single submitter
48.
GRCh37:
ChrX:153640408
GRCh38:
ChrX:154412071
DNASE1L1, TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Mar 8, 2022)
criteria provided, single submitter
49.
GRCh37:
ChrX:153648591
GRCh38:
ChrX:154420252
TAFAZZINCardiovascular phenotype, 3-Methylglutaconic aciduria type 2Likely benign
(Feb 13, 2023)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
ChrX:153641572
GRCh38:
ChrX:154413235
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Aug 21, 2022)
criteria provided, single submitter
51.
GRCh37:
ChrX:153641923
GRCh38:
ChrX:154413586
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Oct 19, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:153648441
GRCh38:
ChrX:154420102
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Sep 22, 2022)
criteria provided, single submitter
53.
GRCh37:
ChrX:153647970
GRCh38:
ChrX:154419631
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Mar 25, 2021)
criteria provided, single submitter
54.
GRCh37:
ChrX:153642419
GRCh38:
ChrX:154414082
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Jul 23, 2022)
criteria provided, single submitter
55.
GRCh37:
ChrX:153640222
GRCh38:
ChrX:154411885
DNASE1L1, TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Mar 18, 2022)
criteria provided, single submitter
56.
GRCh37:
ChrX:153648055
GRCh38:
ChrX:154419716
TAFAZZINM155V, M173V, M185V3-Methylglutaconic aciduria type 2Conflicting interpretations of pathogenicity
(Apr 4, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
ChrX:153647955
GRCh38:
ChrX:154419616
TAFAZZINP179fs, P197fs, P149fs3-Methylglutaconic aciduria type 2Pathogenic
(Jan 21, 2022)
criteria provided, single submitter
58.
GRCh37:
ChrX:153647868-153647873
GRCh38:
ChrX:154419529-154419534
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(May 1, 2022)
criteria provided, single submitter
59.
GRCh37:
ChrX:153647879
GRCh38:
ChrX:154419540
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(May 1, 2022)
criteria provided, single submitter
60.
GRCh37:
ChrX:153642452
GRCh38:
ChrX:154414115
TAFAZZINQ147*, Q129*3-Methylglutaconic aciduria type 2Uncertain significance
(Apr 22, 2022)
criteria provided, single submitter
61.
GRCh37:
ChrX:153648075
GRCh38:
ChrX:154419736
TAFAZZINF162fs, F192fs3-Methylglutaconic aciduria type 2Pathogenic
(Apr 17, 2022)
criteria provided, single submitter
62.
GRCh37:
ChrX:153648081
GRCh38:
ChrX:154419742
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Jul 2, 2022)
criteria provided, single submitter
63.
GRCh37:
ChrX:153640440
GRCh38:
ChrX:154412103
TAFAZZINT61S, T43S3-Methylglutaconic aciduria type 2Uncertain significance
(Nov 22, 2021)
criteria provided, single submitter
64.
GRCh37:
ChrX:153649002
GRCh38:
ChrX:154420663
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Sep 27, 2022)
criteria provided, single submitter
65.
GRCh37:
ChrX:153640466
GRCh38:
ChrX:154412129
TAFAZZINY51*, Y69*3-Methylglutaconic aciduria type 2Pathogenic
(Apr 9, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
ChrX:153640303
GRCh38:
ChrX:154411966
DNASE1L1, TAFAZZINA42fs3-Methylglutaconic aciduria type 2Likely benign
(Mar 2, 2022)
criteria provided, single submitter
67.
GRCh37:
ChrX:153642446
GRCh38:
ChrX:154414109
TAFAZZINF127V, F145V3-Methylglutaconic aciduria type 2Uncertain significance
(Mar 1, 2022)
criteria provided, single submitter
68.
GRCh37:
ChrX:153648081-153648094
GRCh38:
ChrX:154419742-154419755
TAFAZZIN3-Methylglutaconic aciduria type 2Likely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
69.
GRCh37:
ChrX:153648618
GRCh38:
ChrX:154420279
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Feb 25, 2022)
criteria provided, single submitter
70.
GRCh37:
ChrX:153648537
GRCh38:
ChrX:154420198
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(Feb 21, 2022)
criteria provided, single submitter
71.
GRCh37:
ChrX:153642421
GRCh38:
ChrX:154414084
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Mar 3, 2022)
criteria provided, single submitter
72.
GRCh37:
ChrX:153640445
GRCh38:
ChrX:154412108
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Aug 19, 2021)
criteria provided, single submitter
73.
GRCh37:
ChrX:153642544
GRCh38:
ChrX:154414207
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Oct 20, 2022)
criteria provided, single submitter
74.
GRCh37:
ChrX:153640181
GRCh38:
ChrX:154411844
DNASE1L1, TAFAZZINM1V3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 15, 2022)
criteria provided, single submitter
75.
GRCh37:
ChrX:153640458
GRCh38:
ChrX:154412121
TAFAZZINV49L, V67L3-Methylglutaconic aciduria type 2Uncertain significance
(Dec 25, 2021)
criteria provided, single submitter
76.
GRCh37:
ChrX:153642537
GRCh38:
ChrX:154414200
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Oct 5, 2022)
criteria provided, single submitter
77.
GRCh37:
ChrX:153640541
GRCh38:
ChrX:154412204
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Jan 28, 2022)
criteria provided, single submitter
78.
GRCh37:
ChrX:153640492
GRCh38:
ChrX:154412155
TAFAZZINA60V, A78V3-Methylglutaconic aciduria type 2Uncertain significance
(Dec 18, 2021)
criteria provided, single submitter
79.
GRCh37:
ChrX:153648562
GRCh38:
ChrX:154420223
TAFAZZINV220I, V224I, V206I, V208I, V176I, V190I3-Methylglutaconic aciduria type 2Uncertain significance
(May 31, 2021)
criteria provided, single submitter
80.
GRCh37:
ChrX:153647945
GRCh38:
ChrX:154419606
TAFAZZINV175G, V193G, V163G, V145G3-Methylglutaconic aciduria type 2Uncertain significance
(Jun 4, 2022)
criteria provided, single submitter
81.
GRCh37:
ChrX:153648074
GRCh38:
ChrX:154419735
TAFAZZINR161P, R179P, R191P3-Methylglutaconic aciduria type 2Uncertain significance
(Oct 26, 2022)
criteria provided, single submitter
82.
GRCh37:
ChrX:153640272
GRCh38:
ChrX:154411935
DNASE1L1, TAFAZZINY31C3-Methylglutaconic aciduria type 2Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
83.
GRCh37:
ChrX:153649024
GRCh38:
ChrX:154420685
TAFAZZINF199I, F231I, F213I, F229I, F247I, F243I3-Methylglutaconic aciduria type 2Uncertain significance
(Sep 29, 2022)
criteria provided, single submitter
84.
GRCh37:
ChrX:153649004
GRCh38:
ChrX:154420665
TAFAZZINT192I, T222I, T224I, T206I, T236I, T240I3-Methylglutaconic aciduria type 2Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
85.
GRCh37:
ChrX:153640430
GRCh38:
ChrX:154412093
DNASE1L1, TAFAZZINM39I, M57I3-Methylglutaconic aciduria type 2Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
86.
GRCh37:
ChrX:153640249
GRCh38:
ChrX:154411912
DNASE1L1, TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Sep 15, 2022)
criteria provided, single submitter
87.
GRCh37:
ChrX:153641526
GRCh38:
ChrX:154413189
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Sep 13, 2022)
criteria provided, single submitter
88.
GRCh37:
ChrX:153640183
GRCh38:
ChrX:154411846
TAFAZZIN, DNASE1L1M1I3-Methylglutaconic aciduria type 2Uncertain significance
(Sep 10, 2022)
criteria provided, single submitter
89.
GRCh37:
ChrX:153649319
GRCh38:
ChrX:154420980
TAFAZZINH241Q, H255Q, H273Q, H285Q, H289Q, H271Q3-Methylglutaconic aciduria type 2Uncertain significance
(Sep 28, 2022)
criteria provided, single submitter
90.
GRCh37:
ChrX:153648051
GRCh38:
ChrX:154419712
TAFAZZIN3-Methylglutaconic aciduria type 2Uncertain significance
(Aug 6, 2022)
criteria provided, single submitter
91.
GRCh37:
ChrX:153641805
GRCh38:
ChrX:154413468
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Jul 30, 2022)
criteria provided, single submitter
92.
GRCh37:
ChrX:153648622
GRCh38:
ChrX:154420283
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Oct 29, 2022)
criteria provided, single submitter
93.
GRCh37:
ChrX:153647869
GRCh38:
ChrX:154419530
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Jun 22, 2022)
criteria provided, single submitter
94.
GRCh37:
ChrX:153648400
GRCh38:
ChrX:154420061
TAFAZZINL191I, L209I, L175I, L193I, L161I, L205I3-Methylglutaconic aciduria type 2Uncertain significance
(May 25, 2022)
criteria provided, single submitter
95.
GRCh37:
ChrX:153648420
GRCh38:
ChrX:154420081
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(May 17, 2022)
criteria provided, single submitter
96.
GRCh37:
ChrX:153641533
GRCh38:
ChrX:154413196
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Mar 18, 2022)
criteria provided, single submitter
97.
GRCh37:
ChrX:153647867
GRCh38:
ChrX:154419528
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Feb 5, 2022)
criteria provided, single submitter
98.
GRCh37:
ChrX:153647863
GRCh38:
ChrX:154419524
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(Feb 6, 2022)
criteria provided, single submitter
99.
GRCh37:
ChrX:153642537
GRCh38:
ChrX:154414200
TAFAZZIN3-Methylglutaconic aciduria type 2Likely benign
(May 12, 2022)
criteria provided, single submitter
100.
GRCh37:
ChrX:153641842
GRCh38:
ChrX:154413505
TAFAZZINC103Y, C121Y3-Methylglutaconic aciduria type 2Uncertain significance
(Oct 10, 2021)
criteria provided, single submitter
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