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Items: 1 to 100 of 715

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr14:88391483
GRCh38:
Chr14:87925139
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Oct 10, 2017)
criteria provided, single submitterVCV000549887
2.
GRCh37:
Chr14:88391496
GRCh38:
Chr14:87925152
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Aug 25, 2017)
criteria provided, single submitterVCV000553480
3.
GRCh38:
Chr14:87925163-87956828
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Jul 3, 2020)
criteria provided, single submitterVCV001184375
4.
GRCh37:
Chr14:88391520
GRCh38:
Chr14:87925176
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Aug 30, 2017)
criteria provided, single submitterVCV000553596
5.
GRCh37:
Chr14:88399451
GRCh38:
Chr14:87933107
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887448
6.
GRCh37:
Chr14:88399478
GRCh38:
Chr14:87933134
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887449
7.
GRCh37:
Chr14:88399488
GRCh38:
Chr14:87933144
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314727
8.
GRCh37:
Chr14:88399488-88419358
GRCh38:
Chr14:87933144-87953014
GALCNormal pregnancynot providedno assertion providedVCV000157318
9.
GRCh37:
Chr14:88399492
GRCh38:
Chr14:87933148
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887632
10.
GRCh37:
Chr14:88399618
GRCh38:
Chr14:87933274
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000314728
11.
GRCh37:
Chr14:88399623
GRCh38:
Chr14:87933279
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314729
12.
GRCh37:
Chr14:88399625
GRCh38:
Chr14:87933281
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000314730
13.
GRCh37:
Chr14:88399801
GRCh38:
Chr14:87933457
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314731
14.
GRCh37:
Chr14:88399888-88399890
GRCh38:
Chr14:87933544-87933546
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000314732
15.
GRCh37:
Chr14:88399950
GRCh38:
Chr14:87933606
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314733
16.
GRCh37:
Chr14:88400077
GRCh38:
Chr14:87933733
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887633
17.
GRCh37:
Chr14:88400082
GRCh38:
Chr14:87933738
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884481
18.
GRCh37:
Chr14:88400087
GRCh38:
Chr14:87933743
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314734
19.
GRCh37:
Chr14:88400199
GRCh38:
Chr14:87933855
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884482
20.
GRCh37:
Chr14:88400275
GRCh38:
Chr14:87933931
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000314735
21.
GRCh37:
Chr14:88400353
GRCh38:
Chr14:87934009
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314736
22.
GRCh37:
Chr14:88400367
GRCh38:
Chr14:87934023
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000314737
23.
GRCh37:
Chr14:88400449
GRCh38:
Chr14:87934105
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314738
24.
GRCh37:
Chr14:88400450
GRCh38:
Chr14:87934106
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314739
25.
GRCh37:
Chr14:88400485
GRCh38:
Chr14:87934141
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000314740
26.
GRCh37:
Chr14:88400486
GRCh38:
Chr14:87934142
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314741
27.
GRCh37:
Chr14:88400577
GRCh38:
Chr14:87934233
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885422
28.
GRCh37:
Chr14:88400590
GRCh38:
Chr14:87934246
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885423
29.
GRCh37:
Chr14:88400621
GRCh38:
Chr14:87934277
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885424
30.
GRCh37:
Chr14:88400671
GRCh38:
Chr14:87934327
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886438
31.
GRCh37:
Chr14:88400681
GRCh38:
Chr14:87934337
GALCGalactosylceramide beta-galactosidase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000314742
32.
GRCh37:
Chr14:88400687
GRCh38:
Chr14:87934343
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886439
33.
GRCh37:
Chr14:88400701
GRCh38:
Chr14:87934357
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886440
34.
GRCh37:
Chr14:88400710
GRCh38:
Chr14:87934366
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886441
35.
GRCh37:
Chr14:88400713
GRCh38:
Chr14:87934369
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886442
36.
GRCh37:
Chr14:88401056-88416295
GRCh38:
Chr14:87934712-87949951
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Sep 28, 2018)
criteria provided, single submitterVCV000655243
37.
GRCh37:
Chr14:88401056-88417112
GRCh38:
Chr14:87934712-87950768
GALCGalactosylceramide beta-galactosidase deficiencyPathogenic
(Dec 17, 2019)
criteria provided, single submitterVCV000456710
38.
GRCh37:
Chr14:88401062
GRCh38:
Chr14:87934718
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Sep 29, 2017)
criteria provided, single submitterVCV000554205
39.
GRCh37:
Chr14:88401064
GRCh38:
Chr14:87934720
GALCGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Aug 16, 2017)
criteria provided, single submitterVCV000553369
40.
GRCh37:
Chr14:88401078
GRCh38:
Chr14:87934734
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Oct 7, 2020)
criteria provided, single submitterVCV001066870
41.
GRCh37:
Chr14:88401079
GRCh38:
Chr14:87934735
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jun 25, 2020)
criteria provided, single submitterVCV001159697
42.
GRCh37:
Chr14:88401081
GRCh38:
Chr14:87934737
GALCR685S, R662S, R659SGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000314743
43.
GRCh37:
Chr14:88401093
GRCh38:
Chr14:87934749
GALCV681M, V655M, V658Mnot provided, Galactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Oct 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000208291
44.
GRCh37:
Chr14:88401094
GRCh38:
Chr14:87934750
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Sep 12, 2019)
criteria provided, single submitterVCV001122760
45.
GRCh37:
Chr14:88401094-88401098
GRCh38:
Chr14:87934750-87934754
GALCF653fs, F656fs, F679fsGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Aug 11, 2020)
criteria provided, single submitterVCV001067094
46.
GRCh37:
Chr14:88401094-88401097
GRCh38:
Chr14:87934750-87934753
GALCF679fs, F656fs, F653fsGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Dec 4, 2019)
criteria provided, single submitterVCV000841901
47.
GRCh37:
Chr14:88401099
GRCh38:
Chr14:87934755
GALCF679L, F656L, F653Lnot specifiedUncertain significance
(Oct 23, 2017)
criteria provided, single submitterVCV000633227
48.
GRCh37:
Chr14:88401100
GRCh38:
Chr14:87934756
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Oct 4, 2020)
criteria provided, single submitterVCV000742320
49.
GRCh37:
Chr14:88401112
GRCh38:
Chr14:87934768
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Mar 14, 2019)
criteria provided, single submitterVCV001105984
50.
GRCh37:
Chr14:88401132
GRCh38:
Chr14:87934788
GALCT642P, T645P, T668PGalactosylceramide beta-galactosidase deficiencyPathogenic
(Feb 14, 2019)
criteria provided, single submitterVCV000857343
51.
GRCh37:
Chr14:88401133
GRCh38:
Chr14:87934789
GALCGalactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Aug 14, 2020)
criteria provided, conflicting interpretationsVCV000314744
52.
GRCh37:
Chr14:88401137
GRCh38:
Chr14:87934793
GALCI643T, I666T, I640Tnot providedUncertain significance
(Aug 1, 2017)
criteria provided, single submitterVCV000807156
53.
GRCh37:
Chr14:88401142
GRCh38:
Chr14:87934798
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyLikely benign
(Oct 23, 2018)
criteria provided, single submitterVCV000793368
54.
GRCh37:
Chr14:88401147
GRCh38:
Chr14:87934803
GALCW637fs, W640fs, W663fsGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001066093
55.
GRCh37:
Chr14:88401147
GRCh38:
Chr14:87934803
GALCW640G, W663G, W637GGalactosylceramide beta-galactosidase deficiency, Abnormality of brain morphologyConflicting interpretations of pathogenicity
(Apr 18, 2018)
criteria provided, conflicting interpretationsVCV000402185
56.
GRCh37:
Chr14:88401156
GRCh38:
Chr14:87934812
GALCK660*, K637*, K634*Galactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Mar 24, 2017)
criteria provided, single submitterVCV000551195
57.
GRCh37:
Chr14:88401170
GRCh38:
Chr14:87934826
GALCP629fs, P632fs, P655fsGalactosylceramide beta-galactosidase deficiencyPathogenic
(Sep 18, 2021)
criteria provided, single submitterVCV001298354
58.
GRCh37:
Chr14:88401185
GRCh38:
Chr14:87934841
GALCL650P, L624P, L627Pnot specified, not provided, Galactosylceramide beta-galactosidase deficiency
Uncertain significance
(May 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000555965
59.
GRCh37:
Chr14:88401187
GRCh38:
Chr14:87934843
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jun 1, 2020)
criteria provided, single submitterVCV001127303
60.
GRCh37:
Chr14:88401192
GRCh38:
Chr14:87934848
GALCK648*, K625*, K622*Galactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Nov 3, 2021)
criteria provided, conflicting interpretationsVCV000870534
61.
GRCh37:
Chr14:88401200
GRCh38:
Chr14:87934856
GALCL619R, L622R, L645Rnot providedLikely pathogenic
(Oct 15, 2018)
criteria provided, single submitterVCV000988561
62.
GRCh37:
Chr14:88401213-88401214
GRCh38:
Chr14:87934869-87934870
GALCT615A, T618A, T641AGalactosylceramide beta-galactosidase deficiencyLikely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001100101
63.
GRCh37:
Chr14:88401213
GRCh38:
Chr14:87934869
GALCT641A, T618A, T615Anot specified, not provided, Galactosylceramide beta-galactosidase deficiency
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000092500
64.
GRCh37:
Chr14:88401222
GRCh38:
Chr14:87934878
GALCG638S, G615S, G612Snot specified, not providedUncertain significance
(Feb 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000194698
65.
GRCh37:
Chr14:88401223
GRCh38:
Chr14:87934879
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Jan 13, 2018)
criteria provided, single submitterVCV000550049
66.
GRCh37:
Chr14:88401228-88401229
GRCh38:
Chr14:87934884-87934885
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Apr 10, 2019)
criteria provided, single submitterVCV001128892
67.
GRCh37:
Chr14:88401229
GRCh38:
Chr14:87934885
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Mar 14, 2020)
criteria provided, single submitterVCV001105015
68.
GRCh37:
Chr14:88401392
GRCh38:
Chr14:87935048
GALCnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000680310
69.
GRCh37:
Chr14:88401442
GRCh38:
Chr14:87935098
GALCnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000680309
70.
GRCh37:
Chr14:88401443
GRCh38:
Chr14:87935099
GALCnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001241780
71.
GRCh37:
Chr14:88401460
GRCh38:
Chr14:87935116
GALCnot providedBenign
(Jun 28, 2018)
criteria provided, single submitterVCV001234551
72.
GRCh37:
Chr14:88406120
GRCh38:
Chr14:87939776
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000680307
73.
GRCh37:
Chr14:88406127
GRCh38:
Chr14:87939783
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000680306
74.
GRCh37:
Chr14:88406239
GRCh38:
Chr14:87939895
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001111049
75.
GRCh37:
Chr14:88406240
GRCh38:
Chr14:87939896
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jul 17, 2020)
criteria provided, single submitterVCV001096862
76.
GRCh37:
Chr14:88406242
GRCh38:
Chr14:87939898
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(May 14, 2020)
criteria provided, single submitterVCV001122376
77.
GRCh37:
Chr14:88406244-88406248
GRCh38:
Chr14:87939900-87939904
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Mar 21, 2018)
criteria provided, single submitterVCV000557290
78.
GRCh37:
Chr14:88406259
GRCh38:
Chr14:87939915
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Nov 3, 2017)
criteria provided, single submitterVCV000554777
79.
GRCh37:
Chr14:88406259
GRCh38:
Chr14:87939915
GALCL634S, L611S, L608Snot provided, Galactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Jul 22, 2021)
criteria provided, conflicting interpretationsVCV000225368
80.
GRCh37:
Chr14:88406260-88406264
GRCh38:
Chr14:87939916-87939920
GALCT610fs, T607fs, T633fsnot provided, Galactosylceramide beta-galactosidase deficiencyPathogenic/Likely pathogenic
(Aug 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000555939
81.
GRCh37:
Chr14:88406261
GRCh38:
Chr14:87939917
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Aug 26, 2020)
criteria provided, single submitterVCV001147562
82.
GRCh37:
Chr14:88406261
GRCh38:
Chr14:87939917
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Dec 6, 2020)
criteria provided, single submitterVCV000755469
83.
GRCh37:
Chr14:88406262
GRCh38:
Chr14:87939918
GALCT607M, T610M, T633MGalactosylceramide beta-galactosidase deficiencyConflicting interpretations of pathogenicity
(Jul 13, 2020)
criteria provided, conflicting interpretationsVCV000858517
84.
GRCh37:
Chr14:88406262-88406263
GRCh38:
Chr14:87939918-87939919
GALCT607fs, T633fs, T610fsnot providedLikely pathogenic
(May 17, 2018)
criteria provided, single submitterVCV000424065
85.
GRCh37:
Chr14:88406265
GRCh38:
Chr14:87939921
GALCL632P, L609P, L606PGalactosylceramide beta-galactosidase deficiencyUncertain significance
(May 23, 2017)
criteria provided, single submitterVCV000552101
86.
GRCh37:
Chr14:88406267
GRCh38:
Chr14:87939923
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Jul 14, 2019)
criteria provided, single submitterVCV001078042
87.
GRCh37:
Chr14:88406270
GRCh38:
Chr14:87939926
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Sep 29, 2020)
criteria provided, single submitterVCV001090329
88.
GRCh37:
Chr14:88406270
GRCh38:
Chr14:87939926
GALCY630*, Y604*, Y607*not provided, Galactosylceramide beta-galactosidase deficiencyPathogenic
(Jun 15, 2017)
criteria provided, single submitterVCV000370392
89.
GRCh37:
Chr14:88406273
GRCh38:
Chr14:87939929
GALCW629fs, W603fs, W606fsGalactosylceramide beta-galactosidase deficiencyUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000942480
90.
GRCh37:
Chr14:88406274
GRCh38:
Chr14:87939930
GALCW629L, W606L, W603LGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Aug 8, 2018)
no assertion criteria providedVCV000592145
91.
GRCh37:
Chr14:88406275-88406276
GRCh38:
Chr14:87939931-87939932
GALCW629fs, W603fs, W606fsGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Apr 12, 2018)
criteria provided, single submitterVCV000557679
92.
GRCh37:
Chr14:88406276
GRCh38:
Chr14:87939932
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001122364
93.
GRCh37:
Chr14:88406276
GRCh38:
Chr14:87939932
GALCK602fs, K605fs, K628fsGalactosylceramide beta-galactosidase deficiencyPathogenic
(Sep 16, 2020)
criteria provided, single submitterVCV001071897
94.
GRCh37:
Chr14:88406298
GRCh38:
Chr14:87939954
GALCR621H, R595H, R598Hnot provided, Galactosylceramide beta-galactosidase deficiencyLikely benign
(Dec 1, 2020)
criteria provided, single submitterVCV000558780
95.
GRCh37:
Chr14:88406302
GRCh38:
Chr14:87939958
GALCG594R, G597R, G620Rnot providedLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV001210861
96.
GRCh37:
Chr14:88406309
GRCh38:
Chr14:87939965
GALCGalactosylceramide beta-galactosidase deficiencyPathogenic/Likely pathogenic
(Jan 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000370366
97.
GRCh37:
Chr14:88406315
GRCh38:
Chr14:87939971
GALCGalactosylceramide beta-galactosidase deficiencyLikely benign
(Sep 21, 2019)
criteria provided, single submitterVCV001124055
98.
GRCh37:
Chr14:88406323
GRCh38:
Chr14:87939979
GALCG613*, G587*, G590*Galactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Jul 7, 2016)
criteria provided, single submitterVCV000371136
99.
GRCh37:
Chr14:88406326
GRCh38:
Chr14:87939982
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Feb 7, 2017)
criteria provided, single submitterVCV000550658
100.
GRCh37:
Chr14:88406404
GRCh38:
Chr14:87940060
GALCnot provided, Galactosylceramide beta-galactosidase deficiencyBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV001177548
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