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Items: 1 to 100 of 593

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr22:51061199
GRCh38:
Chr22:50622771
ARSAMetachromatic leukodystrophyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000342183
2.
GRCh37:
Chr22:51061205
GRCh38:
Chr22:50622777
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 17, 2018)
criteria provided, single submitterVCV000899550
3.
GRCh37:
Chr22:51061257
GRCh38:
Chr22:50622829
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342184
4.
GRCh37:
Chr22:51061272
GRCh38:
Chr22:50622844
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342185
5.
GRCh37:
Chr22:51061290
GRCh38:
Chr22:50622862
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899551
6.
GRCh37:
Chr22:51061314
GRCh38:
Chr22:50622886
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342186
7.
GRCh37:
Chr22:51061368
GRCh38:
Chr22:50622940
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342187
8.
GRCh37:
Chr22:51061439
GRCh38:
Chr22:50623011
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899552
9.
GRCh37:
Chr22:51061480-51061482
GRCh38:
Chr22:50623052-50623054
ARSAMetachromatic leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000342188
10.
GRCh37:
Chr22:51061508
GRCh38:
Chr22:50623080
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000900690
11.
GRCh37:
Chr22:51061536
GRCh38:
Chr22:50623108
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900691
12.
GRCh37:
Chr22:51061550
GRCh38:
Chr22:50623122
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342189
13.
GRCh37:
Chr22:51061586
GRCh38:
Chr22:50623158
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342190
14.
GRCh37:
Chr22:51061604
GRCh38:
Chr22:50623176
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900692
15.
GRCh37:
Chr22:51061748
GRCh38:
Chr22:50623320
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900693
16.
GRCh37:
Chr22:51061804
GRCh38:
Chr22:50623376
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342191
17.
GRCh37:
Chr22:51061827
GRCh38:
Chr22:50623399
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000342192
18.
GRCh37:
Chr22:51061859
GRCh38:
Chr22:50623431
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902371
19.
GRCh37:
Chr22:51061861
GRCh38:
Chr22:50623433
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902372
20.
GRCh37:
Chr22:51061944
GRCh38:
Chr22:50623516
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342193
21.
GRCh37:
Chr22:51061946
GRCh38:
Chr22:50623518
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342194
22.
GRCh37:
Chr22:51061956
GRCh38:
Chr22:50623528
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342195
23.
GRCh37:
Chr22:51061997
GRCh38:
Chr22:50623569
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342196
24.
GRCh37:
Chr22:51062003
GRCh38:
Chr22:50623575
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000342197
25.
GRCh37:
Chr22:51062051
GRCh38:
Chr22:50623623
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000342198
26.
GRCh37:
Chr22:51062096
GRCh38:
Chr22:50623668
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903232
27.
GRCh37:
Chr22:51062097
GRCh38:
Chr22:50623669
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342199
28.
GRCh37:
Chr22:51062098
GRCh38:
Chr22:50623670
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342200
29.
GRCh37:
Chr22:51062168-51062169
GRCh38:
Chr22:50623740-50623741
ARSAMetachromatic leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000342201
30.
GRCh37:
Chr22:51062201
GRCh38:
Chr22:50623773
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342203
31.
GRCh37:
Chr22:51062201
GRCh38:
Chr22:50623773
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342202
32.
GRCh37:
Chr22:51062204
GRCh38:
Chr22:50623776
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000342204
33.
GRCh37:
Chr22:51062222
GRCh38:
Chr22:50623794
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342205
34.
GRCh37:
Chr22:51062306
GRCh38:
Chr22:50623878
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342206
35.
GRCh37:
Chr22:51062335
GRCh38:
Chr22:50623907
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342207
36.
GRCh37:
Chr22:51062360
GRCh38:
Chr22:50623932
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342208
37.
GRCh37:
Chr22:51062361
GRCh38:
Chr22:50623933
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342209
38.
GRCh37:
Chr22:51062366
GRCh38:
Chr22:50623938
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000899628
39.
GRCh37:
Chr22:51062367
GRCh38:
Chr22:50623939
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342210
40.
GRCh37:
Chr22:51062402
GRCh38:
Chr22:50623974
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899629
41.
GRCh37:
Chr22:51062416
GRCh38:
Chr22:50623988
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899630
42.
GRCh37:
Chr22:51062497
GRCh38:
Chr22:50624069
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000342211
43.
GRCh37:
Chr22:51062500
GRCh38:
Chr22:50624072
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900763
44.
GRCh37:
Chr22:51062510-51062511
GRCh38:
Chr22:50624082-50624083
ARSAMetachromatic leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000342212
45.
GRCh37:
Chr22:51062524
GRCh38:
Chr22:50624096
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900764
46.
GRCh37:
Chr22:51062561
GRCh38:
Chr22:50624133
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342213
47.
GRCh37:
Chr22:51062581
GRCh38:
Chr22:50624153
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000900765
48.
GRCh37:
Chr22:51062654
GRCh38:
Chr22:50624226
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342214
49.
GRCh37:
Chr22:51062699
GRCh38:
Chr22:50624271
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342215
50.
GRCh37:
Chr22:51062718
GRCh38:
Chr22:50624290
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342216
51.
GRCh37:
Chr22:51062779
GRCh38:
Chr22:50624351
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342217
52.
GRCh37:
Chr22:51062796
GRCh38:
Chr22:50624368
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342218
53.
GRCh37:
Chr22:51062832
GRCh38:
Chr22:50624404
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342219
54.
GRCh37:
Chr22:51062844
GRCh38:
Chr22:50624416
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342220
55.
GRCh37:
Chr22:51062891
GRCh38:
Chr22:50624463
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342221
56.
GRCh37:
Chr22:51062930
GRCh38:
Chr22:50624502
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342222
57.
GRCh37:
Chr22:51062938
GRCh38:
Chr22:50624510
ARSAMetachromatic leukodystrophyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000342223
58.
GRCh37:
Chr22:51062948
GRCh38:
Chr22:50624520
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342224
59.
GRCh37:
Chr22:51062949
GRCh38:
Chr22:50624521
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000903293
60.
GRCh37:
Chr22:51063046
GRCh38:
Chr22:50624618
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000903294
61.
GRCh37:
Chr22:51063070
GRCh38:
Chr22:50624642
ARSAMetachromatic leukodystrophyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000342225
62.
GRCh37:
Chr22:51063094
GRCh38:
Chr22:50624666
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903295
63.
GRCh37:
Chr22:51063107
GRCh38:
Chr22:50624679
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903296
64.
GRCh37:
Chr22:51063160
GRCh38:
Chr22:50624732
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903297
65.
GRCh37:
Chr22:51063184
GRCh38:
Chr22:50624756
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903298
66.
GRCh37:
Chr22:51063193
GRCh38:
Chr22:50624765
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000899694
67.
GRCh37:
Chr22:51063231
GRCh38:
Chr22:50624803
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342226
68.
GRCh37:
Chr22:51063233
GRCh38:
Chr22:50624805
ARSAMetachromatic leukodystrophyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000342227
69.
GRCh37:
Chr22:51063241
GRCh38:
Chr22:50624813
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342228
70.
GRCh37:
Chr22:51063280
GRCh38:
Chr22:50624852
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000342229
71.
GRCh37:
Chr22:51063363
GRCh38:
Chr22:50624935
ARSAnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001238569
72.
GRCh37:
Chr22:51063382
GRCh38:
Chr22:50624954
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342230
73.
GRCh37:
Chr22:51063408
GRCh38:
Chr22:50624980
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899695
74.
GRCh37:
Chr22:51063443
GRCh38:
Chr22:50625015
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342231
75.
GRCh37:
Chr22:51063446
GRCh38:
Chr22:50625018
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900838
76.
GRCh37:
Chr22:51063448
GRCh38:
Chr22:50625020
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342232
77.
GRCh37:
Chr22:51063470
GRCh38:
Chr22:50625042
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000342233
78.
GRCh37:
Chr22:51063477
GRCh38:
Chr22:50625049
ARSAnot specified, not provided, Metachromatic leukodystrophy,
Arylsulfatase A pseudodeficiency
Benign, other
(Jun 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000003049
79.
GRCh37:
Chr22:51063500
GRCh38:
Chr22:50625072
ARSAMetachromatic leukodystrophyUncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195892
80.
GRCh37:
Chr22:51063553-51066227
GRCh38:
Chr22:50625125-50627799
ARSAMetachromatic leukodystrophyPathogenic
(Dec 24, 2019)
criteria provided, single submitterVCV000526831
81.
GRCh37:
Chr22:51063558
GRCh38:
Chr22:50625130
ARSAnot provided, Metachromatic leukodystrophyConflicting interpretations of pathogenicity
(Apr 27, 2017)
criteria provided, conflicting interpretationsVCV000900839
82.
GRCh37:
Chr22:51063563
GRCh38:
Chr22:50625135
ARSAMetachromatic leukodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900840
83.
GRCh37:
Chr22:51063580
GRCh38:
Chr22:50625152
ARSAH422R, H508RMetachromatic leukodystrophyUncertain significance
(Mar 7, 2019)
criteria provided, single submitterVCV001028784
84.
GRCh37:
Chr22:51063581
GRCh38:
Chr22:50625153
ARSAH422Y, H508YMetachromatic leukodystrophyUncertain significance
(Jan 29, 2019)
criteria provided, single submitterVCV000971321
85.
GRCh37:
Chr22:51063610
GRCh38:
Chr22:50625182
ARSAR412L, R498Lnot provided, Metachromatic leukodystrophyUncertain significance
(Apr 6, 2021)
criteria provided, multiple submitters, no conflictsVCV000855587
86.
GRCh37:
Chr22:51063610-51063611
GRCh38:
Chr22:50625182-50625183
ARSAR498fs, R412fsMetachromatic leukodystrophyPathogenic/Likely pathogenic
(Nov 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000371650
87.
GRCh37:
Chr22:51063610-51063611
GRCh38:
Chr22:50625182-50625183
ARSAR498fs, R412fsnot provided, Metachromatic leukodystrophyPathogenic/Likely pathogenic
(Sep 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000188843
88.
GRCh37:
Chr22:51063610
GRCh38:
Chr22:50625182
ARSAR498H, R412Hnot specified, not provided, Metachromatic leukodystrophy
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000093120
89.
GRCh37:
Chr22:51063611-51063613
GRCh38:
Chr22:50625183-50625185
ARSAP497del, P411delMetachromatic leukodystrophyUncertain significance
(Mar 27, 2018)
criteria provided, single submitterVCV000557490
90.
GRCh37:
Chr22:51063616
GRCh38:
Chr22:50625188
ARSAT410I, T496IMetachromatic leukodystrophyLikely benign
(Oct 13, 2020)
criteria provided, single submitterVCV000728293
91.
GRCh37:
Chr22:51063617
GRCh38:
Chr22:50625189
ARSAT410P, T496Pnot providedUncertain significance
(Apr 7, 2021)
criteria provided, single submitterVCV001314507
92.
GRCh37:
Chr22:51063623
GRCh38:
Chr22:50625195
ARSAG408S, G494SMetachromatic leukodystrophyUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV001000735
93.
GRCh37:
Chr22:51063631
GRCh38:
Chr22:50625203
ARSAC491Y, C405YMetachromatic leukodystrophyUncertain significance
(Jun 27, 2016)
no assertion criteria providedVCV000417892
94.
GRCh37:
Chr22:51063632
GRCh38:
Chr22:50625204
ARSAC491R, C405Rnot providedUncertain significance
(Oct 27, 2016)
criteria provided, single submitterVCV000166689
95.
GRCh37:
Chr22:51063632
GRCh38:
Chr22:50625204
ARSAC491G, C405Gnot provided, Metachromatic leukodystrophyUncertain significance
(May 17, 2017)
criteria provided, single submitterVCV000068122
96.
GRCh37:
Chr22:51063641
GRCh38:
Chr22:50625213
ARSAQ488*, Q402*Arylsulfatase A pseudodeficiencyPathogenic
(Nov 7, 2018)
no assertion criteria providedVCV000003088
97.
GRCh37:
Chr22:51063648
GRCh38:
Chr22:50625220
ARSAMetachromatic leukodystrophyLikely benign
(Nov 23, 2020)
criteria provided, single submitterVCV000729949
98.
GRCh37:
Chr22:51063656
GRCh38:
Chr22:50625228
ARSAE483*, E397*Metachromatic leukodystrophyLikely pathogenic
(Sep 8, 2019)
criteria provided, single submitterVCV000941799
99.
GRCh37:
Chr22:51063656
GRCh38:
Chr22:50625228
ARSAE483K, E397Knot provided, Metachromatic leukodystrophyConflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000198734
100.
GRCh37:
Chr22:51063657
GRCh38:
Chr22:50625229
ARSAMetachromatic leukodystrophyLikely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001150329
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