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Items: 92

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:24172247
GRCh38:
Chr1:23845757
FUCA1FucosidosisLikely benign
(Oct 30, 2020)
criteria provided, single submitterVCV001144782
2.
GRCh37:
Chr1:24194633
GRCh38:
Chr1:23868143
FUCA1FucosidosisLikely benign
(Nov 21, 2019)
criteria provided, single submitterVCV001137402
3.
GRCh37:
Chr1:24186404
GRCh38:
Chr1:23859914
FUCA1FucosidosisLikely benign
(Oct 5, 2020)
criteria provided, single submitterVCV001128310
4.
GRCh37:
Chr1:24189754
GRCh38:
Chr1:23863264
FUCA1R178CFucosidosisLikely benign
(Nov 30, 2020)
criteria provided, single submitterVCV001081527
5.
GRCh37:
Chr1:24186138-24192210
GRCh38:
Chr1:23859648-23865720
FUCA1FucosidosisPathogenicno assertion criteria providedVCV001065617
6.
GRCh37:
Chr1:24192013
GRCh38:
Chr1:23865523
FUCA1L164FFucosidosisUncertain significance
(Jan 20, 2020)
criteria provided, single submitterVCV001046866
7.
GRCh37:
Chr1:24194427
GRCh38:
Chr1:23867937
FUCA1P117LFucosidosisUncertain significance
(Aug 21, 2020)
criteria provided, single submitterVCV001042836
8.
GRCh37:
Chr1:24194691
GRCh38:
Chr1:23868201
FUCA1R29LFucosidosisUncertain significance
(May 11, 2020)
criteria provided, single submitterVCV001006701
9.
GRCh37:
Chr1:24189706
GRCh38:
Chr1:23863216
FUCA1L194IFucosidosisUncertain significance
(Jan 18, 2020)
criteria provided, single submitterVCV001000613
10.
GRCh37:
Chr1:24189616-24189624
GRCh38:
Chr1:23863126-23863134
FUCA1FucosidosisLikely pathogenic
(Dec 11, 2020)
no assertion criteria providedVCV000988780
11.
GRCh37:
Chr1:24194562
GRCh38:
Chr1:23868072
FUCA1W72XFucosidosisLikely pathogenicno assertion criteria providedVCV000984723
12.
GRCh37:
Chr1:24186287
GRCh38:
Chr1:23859797
FUCA1FucosidosisPathogenic
(Mar 1, 2020)
criteria provided, single submitterVCV000984720
13.
GRCh37:
Chr1:24180867
GRCh38:
Chr1:23854377
FUCA1E318*FucosidosisLikely pathogenic
(Sep 16, 2020)
criteria provided, single submitterVCV000981066
14.
GRCh37:
Chr1:24189619
GRCh38:
Chr1:23863129
FUCA1FucosidosisPathogenicno assertion criteria providedVCV000979026
15.
GRCh37:
Chr1:24194607
GRCh38:
Chr1:23868117
FUCA1K57fsFucosidosisPathogenicno assertion criteria providedVCV000979025
16.
GRCh37:
Chr1:24194540
GRCh38:
Chr1:23868050
FUCA1W79fsFucosidosisPathogenicno assertion criteria providedVCV000979024
17.
GRCh37:
Chr1:24175304
GRCh38:
Chr1:23848814
FUCA1G332EFucosidosisPathogenicno assertion criteria providedVCV000979023
18.
GRCh37:
Chr1:24186365
GRCh38:
Chr1:23859875
FUCA1G231RFucosidosisLikely pathogeniccriteria provided, single submitterVCV000973571
19.
GRCh37:
Chr1:24175161
GRCh38:
Chr1:23848671
FUCA1E380QFucosidosisUncertain significance
(Aug 2, 2019)
criteria provided, single submitterVCV000962530
20.
GRCh37:
Chr1:24192033
GRCh38:
Chr1:23865543
FUCA1V158MFucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876435
21.
GRCh37:
Chr1:24192016
GRCh38:
Chr1:23865526
FUCA1FucosidosisUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000876434
22.
GRCh37:
Chr1:24175275
GRCh38:
Chr1:23848785
FUCA1T342AFucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875408
23.
GRCh37:
Chr1:24175224
GRCh38:
Chr1:23848734
FUCA1G359RFucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875407
24.
GRCh37:
Chr1:24175223
GRCh38:
Chr1:23848733
FUCA1G359EFucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875406
25.
GRCh37:
Chr1:24172557
GRCh38:
Chr1:23846067
FUCA1FucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875405
26.
GRCh37:
Chr1:24172108
GRCh38:
Chr1:23845618
FUCA1FucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875404
27.
GRCh37:
Chr1:24171863
GRCh38:
Chr1:23845373
FUCA1FucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875348
28.
GRCh37:
Chr1:24194671
GRCh38:
Chr1:23868181
FUCA1R36CFucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874540
29.
GRCh37:
Chr1:24194434
GRCh38:
Chr1:23867944
FUCA1F115LFucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874539
30.
GRCh37:
Chr1:24194373
GRCh38:
Chr1:23867883
FUCA1FucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874538
31.
GRCh37:
Chr1:24192085
GRCh38:
Chr1:23865595
FUCA1E140DFucosidosisUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000874537
32.
FUCA1V28fsFucosidosisPathogenic
(Jul 5, 2019)
criteria provided, single submitterVCV000873015
33.
GRCh37:
Chr1:24192101
GRCh38:
Chr1:23865611
FUCA1T135KFucosidosisUncertain significanceno assertion criteria providedVCV000870568
34.
GRCh37:
Chr1:24172311
GRCh38:
Chr1:23845821
FUCA1W432*FucosidosisUncertain significance
(Mar 22, 2019)
criteria provided, single submitterVCV000859832
35.
GRCh37:
Chr1:24189753
GRCh38:
Chr1:23863263
FUCA1R178HFucosidosisUncertain significance
(Mar 21, 2019)
criteria provided, single submitterVCV000837726
36.
GRCh37:
Chr1:24194617-24194626
GRCh38:
Chr1:23868127-23868136
FUCA1A51fsFucosidosisLikely pathogenic
(Nov 15, 2018)
criteria provided, single submitterVCV000800537
37.
GRCh37:
Chr1:24186297
GRCh38:
Chr1:23859807
FUCA1FucosidosisLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794041
38.
GRCh37:
Chr1:24189769
GRCh38:
Chr1:23863279
FUCA1not provided, FucosidosisLikely benign
(Mar 14, 2018)
criteria provided, single submitterVCV000772508
39.
GRCh37:
Chr1:24180845
GRCh38:
Chr1:23854355
FUCA1FucosidosisLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000772281
40.
GRCh37:
Chr1:24189638
GRCh38:
Chr1:23863148
FUCA1FucosidosisBenign/Likely benign
(Nov 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000767042
41.
GRCh37:
Chr1:24175273
GRCh38:
Chr1:23848783
FUCA1Fucosidosis, not providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV000746226
42.
GRCh37:
Chr1:24175180
GRCh38:
Chr1:23848690
FUCA1FucosidosisConflicting interpretations of pathogenicity
(Nov 7, 2020)
criteria provided, conflicting interpretationsVCV000707341
43.
GRCh37:
Chr1:24186268-24186413
GRCh38:
Chr1:23859778-23859923
FUCA1FucosidosisPathogenic
(Jul 26, 2018)
criteria provided, single submitterVCV000656837
44.
GRCh37:
Chr1:24181009
GRCh38:
Chr1:23854519
FUCA1C271fsFucosidosisPathogenic
(May 21, 2018)
criteria provided, single submitterVCV000633222
45.
GRCh37:
Chr1:24180896
GRCh38:
Chr1:23854406
FUCA1R308HFucosidosisUncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000587455
46.
GRCh37:
Chr1:24180876
GRCh38:
Chr1:23854386
FUCA1V315IFucosidosisUncertain significance
(Jun 15, 2018)
criteria provided, single submitterVCV000573270
47.
GRCh37:
Chr1:24180937
GRCh38:
Chr1:23854447
FUCA1E294DFucosidosisUncertain significance
(May 12, 2018)
criteria provided, single submitterVCV000569974
48.
GRCh37:
Chr1:24194568
GRCh38:
Chr1:23868078
FUCA1P70LFucosidosisUncertain significance
(Jun 20, 2018)
criteria provided, single submitterVCV000568113
49.
GRCh37:
Chr1:24175172
GRCh38:
Chr1:23848682
FUCA1R376QFucosidosis, not providedBenign
(Sep 20, 2019)
criteria provided, single submitterVCV000558913
50.
GRCh37:
ChrX:110653339
GRCh38:
ChrX:111410111
DCXN96K, N177KFucosidosisLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000522790
51.
GRCh37:
Chr1:24192083
GRCh38:
Chr1:23865593
FUCA1G141VFucosidosisLikely pathogenic
(Jul 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000488520
52.
GRCh37:
Chr1:24189722
GRCh38:
Chr1:23863232
FUCA1W188*FucosidosisPathogenic
(Nov 8, 2017)
criteria provided, single submitterVCV000488519
53.
GRCh37:
Chr1:24172332
GRCh38:
Chr1:23845842
FUCA1G425EFucosidosisUncertain significance
(May 31, 2017)
criteria provided, single submitterVCV000456362
54.
GRCh37:
Chr1:24194862
GRCh38:
Chr1:23868372
FUCA1Fucosidosis, not providedBenign/Likely benign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000368872
55.
GRCh37:
Chr1:24194820
GRCh38:
Chr1:23868330
FUCA1FucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296897
56.
GRCh37:
Chr1:24194773
GRCh38:
Chr1:23868283
FUCA1FucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296896
57.
GRCh37:
Chr1:24194770
GRCh38:
Chr1:23868280
FUCA1A3PFucosidosis, not providedBenign/Likely benign
(Nov 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000296895
58.
GRCh37:
Chr1:24194747
GRCh38:
Chr1:23868257
FUCA1FucosidosisUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296894
59.
GRCh37:
Chr1:24194610
GRCh38:
Chr1:23868120
FUCA1A56GFucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296893
60.
GRCh37:
Chr1:24194450
GRCh38:
Chr1:23867960
FUCA1not provided, FucosidosisBenign/Likely benign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000296892
61.
GRCh37:
Chr1:24192100
GRCh38:
Chr1:23865610
FUCA1FucosidosisConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000296891
62.
GRCh37:
Chr1:24192072
GRCh38:
Chr1:23865582
FUCA1W145RFucosidosis, not provided, Intellectual disability
Uncertain significance
(Oct 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000296890
63.
GRCh37:
Chr1:24192068
GRCh38:
Chr1:23865578
FUCA1P146Lnot provided, FucosidosisBenign/Likely benign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000296889
64.
GRCh37:
Chr1:24189637
GRCh38:
Chr1:23863147
FUCA1D217NFucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296888
65.
GRCh37:
Chr1:24180994
GRCh38:
Chr1:23854504
FUCA1FucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296887
66.
GRCh37:
Chr1:24180883
GRCh38:
Chr1:23854393
FUCA1FucosidosisConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000296886
67.
GRCh37:
Chr1:24175151
GRCh38:
Chr1:23848661
FUCA1T383Inot provided, FucosidosisBenign/Likely benign
(Apr 26, 2021)
criteria provided, multiple submitters, no conflictsVCV000296885
68.
GRCh37:
Chr1:24171935
GRCh38:
Chr1:23845445
FUCA1FucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296884
69.
GRCh37:
Chr1:24171919
GRCh38:
Chr1:23845429
FUCA1FucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296883
70.
GRCh37:
Chr1:24171763-24171767
GRCh38:
Chr1:23845273-23845277
FUCA1FucosidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000296882
71.
GRCh37:
Chr1:24171678
GRCh38:
Chr1:23845188
FUCA1FucosidosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000296881
72.
GRCh37:
Chr1:24171661
GRCh38:
Chr1:23845171
FUCA1FucosidosisUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296880
73.
GRCh37:
Chr1:24192103
GRCh38:
Chr1:23865613
FUCA1L134FFucosidosis, not provided, not specified
Benign/Likely benign
(Apr 6, 2021)
criteria provided, multiple submitters, no conflictsVCV000287588
74.
GRCh37:
Chr1:24181041
GRCh38:
Chr1:23854551
FUCA1V260IFucosidosis, not providedLikely benign
(Nov 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000235414
75.
GRCh37:
Chr1:24175174
GRCh38:
Chr1:23848684
FUCA1W375*Fucosidosis, not providedPathogenic
(Jun 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000198046
76.
GRCh37:
Chr1:24194748
GRCh38:
Chr1:23868258
FUCA1P10Rnot specified, Fucosidosis, not provided
Benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000193053
77.
GRCh37:
Chr1:24194773
GRCh38:
Chr1:23868283
FUCA1R2Wnot specified, Fucosidosis, not provided
Benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000193052
78.
GRCh37:
Chr1:24194788
GRCh38:
Chr1:23868298
FUCA1not specified, not provided, Fucosidosis
Benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000193051
79.
GRCh37:
Chr1:24181029
GRCh38:
Chr1:23854539
FUCA1R264*FucosidosisPathogenicno assertion criteria providedVCV000100721
80.
GRCh37:
Chr1:24192041
GRCh38:
Chr1:23865551
FUCA1S155FFucosidosisPathogenicno assertion criteria providedVCV000100720
81.
GRCh37:
Chr1:24172595
GRCh38:
Chr1:23846105
FUCA1L410RFucosidosisPathogenic
(Aug 1, 1998)
no assertion criteria providedVCV000000692
82.
GRCh37:
Chr1:24180962
GRCh38:
Chr1:23854472
FUCA1Q286RFU1/FU2 POLYMORPHISM, not provided, Fucosidosis
Benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000000691
83.
FUCA1FucosidosisPathogenic
(Aug 1, 1993)
no assertion criteria providedVCV000000690
84.
FUCA1FucosidosisPathogenic
(Aug 1, 1993)
no assertion criteria providedVCV000000689
85.
FUCA1FucosidosisPathogenic
(Aug 1, 1993)
no assertion criteria providedVCV000000688
86.
GRCh37:
Chr1:24189638
GRCh38:
Chr1:23863148
FUCA1Y216*FucosidosisPathogenic
(Aug 1, 1993)
no assertion criteria providedVCV000000687
87.
GRCh37:
Chr1:24175139
GRCh38:
Chr1:23848649
FUCA1W387*FucosidosisPathogenic
(Aug 1, 1993)
no assertion criteria providedVCV000000686
88.
GRCh37:
Chr1:24194533
GRCh38:
Chr1:23868043
FUCA1Q82*FucosidosisPathogenic
(Jan 24, 2020)
criteria provided, single submitterVCV000000685
89.
GRCh37:
Chr1:24180849
GRCh38:
Chr1:23854359
FUCA1FucosidosisPathogenic
(Mar 1, 1993)
no assertion criteria providedVCV000000684
90.
GRCh37:
Chr1:24175161
GRCh38:
Chr1:23848671
FUCA1E380*FucosidosisPathogenic
(Dec 3, 2019)
criteria provided, multiple submitters, no conflictsVCV000000683
91.
FUCA1FucosidosisPathogenic
(Jan 1, 1991)
no assertion criteria providedVCV000000682
92.
GRCh37:
Chr1:24172327
GRCh38:
Chr1:23845837
FUCA1Q427*FucosidosisPathogenic
(Apr 6, 2017)
criteria provided, single submitterVCV000000681
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