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Items: 1 to 100 of 284

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:65259548-84136510
GRCh38:
Chr6:64549655-83426791
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154460
2.
GRCh37:
Chr6:74189643-75641586
GRCh38:
Chr6:73479920-74931870
EEF1A1, MTO1, SLC17A5, CD109, LOC101928489, LOC101928516, LOC113175018See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057394
3.
GRCh37:
Chr6:74303104
GRCh38:
Chr6:73593381
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357897
4.
GRCh37:
Chr6:74303108
GRCh38:
Chr6:73593385
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000911492
5.
GRCh37:
Chr6:74303170
GRCh38:
Chr6:73593447
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000357898
6.
GRCh37:
Chr6:74303213
GRCh38:
Chr6:73593490
SLC17A5Salla diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357899
7.
GRCh37:
Chr6:74303234
GRCh38:
Chr6:73593511
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357900
8.
GRCh37:
Chr6:74303235
GRCh38:
Chr6:73593512
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357901
9.
GRCh37:
Chr6:74303267
GRCh38:
Chr6:73593544
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357902
10.
GRCh37:
Chr6:74303308
GRCh38:
Chr6:73593585
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000357903
11.
GRCh37:
Chr6:74303350
GRCh38:
Chr6:73593627
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357904
12.
GRCh37:
Chr6:74303468
GRCh38:
Chr6:73593745
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357906
13.
GRCh37:
Chr6:74303468
GRCh38:
Chr6:73593745
SLC17A5Salla diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357905
14.
GRCh37:
Chr6:74303594
GRCh38:
Chr6:73593871
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909373
15.
GRCh37:
Chr6:74303645
GRCh38:
Chr6:73593922
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909374
16.
GRCh37:
Chr6:74303744
GRCh38:
Chr6:73594021
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000909375
17.
GRCh37:
Chr6:74303829
GRCh38:
Chr6:73594106
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000357907
18.
GRCh37:
Chr6:74303891
GRCh38:
Chr6:73594168
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000910338
19.
GRCh37:
Chr6:74303899
GRCh38:
Chr6:73594176
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357908
20.
GRCh37:
Chr6:74303963
GRCh38:
Chr6:73594240
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357909
21.
GRCh37:
Chr6:74303983
GRCh38:
Chr6:73594260
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357910
22.
GRCh37:
Chr6:74304001
GRCh38:
Chr6:73594278
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000357911
23.
GRCh37:
Chr6:74304036
GRCh38:
Chr6:73594313
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000911549
24.
GRCh37:
Chr6:74304038
GRCh38:
Chr6:73594315
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357912
25.
GRCh37:
Chr6:74304134
GRCh38:
Chr6:73594411
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357913
26.
GRCh37:
Chr6:74304205
GRCh38:
Chr6:73594482
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357914
27.
GRCh37:
Chr6:74304212
GRCh38:
Chr6:73594489
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000908593
28.
GRCh37:
Chr6:74304213
GRCh38:
Chr6:73594490
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(May 17, 2018)
criteria provided, single submitterVCV000908594
29.
GRCh37:
Chr6:74304240
GRCh38:
Chr6:73594517
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000357915
30.
GRCh37:
Chr6:74304250
GRCh38:
Chr6:73594527
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909449
31.
GRCh37:
Chr6:74304299
GRCh38:
Chr6:73594576
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909450
32.
GRCh37:
Chr6:74304312
GRCh38:
Chr6:73594589
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000909451
33.
GRCh37:
Chr6:74304322
GRCh38:
Chr6:73594599
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357916
34.
GRCh37:
Chr6:74304415
GRCh38:
Chr6:73594692
SLC17A5not provided, Sialic acid storage disease, severe infantile type, Salla disease
Benign
(May 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000357917
35.
GRCh37:
Chr6:74304427
GRCh38:
Chr6:73594704
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357918
36.
GRCh37:
Chr6:74304607
GRCh38:
Chr6:73594884
SLC17A5Salla disease, Sialic acid storage disease, severe infantile type, not provided
Benign
(Mar 10, 2019)
criteria provided, multiple submitters, no conflictsVCV000357919
37.
GRCh37:
Chr6:74304626
GRCh38:
Chr6:73594903
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000911610
38.
GRCh37:
Chr6:74304780-74363629
GRCh38:
Chr6:73595057-73653906
SLC17A5Salla diseaseUncertain significance
(Dec 5, 2017)
criteria provided, single submitterVCV000532055
39.
GRCh37:
Chr6:74304801
GRCh38:
Chr6:73595078
SLC17A5E466K, E529KSalla diseaseLikely benign
(Jul 15, 2019)
criteria provided, single submitterVCV001158807
40.
GRCh37:
Chr6:74304808-74304809
GRCh38:
Chr6:73595085-73595086
SLC17A5R494fsSalla diseaseUncertain significance
(May 21, 2018)
criteria provided, single submitterVCV000558418
41.
GRCh37:
Chr6:74304808-74304809
GRCh38:
Chr6:73595085-73595086
SLC17A5H493fs, H387fs, H416fs, H440fs, H464fs, H492fs, H500fs, T463fs, T526fsSalla diseaseUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000557554
42.
GRCh37:
Chr6:74304842
GRCh38:
Chr6:73595119
SLC17A5Y452F, Y515FSalla diseaseLikely benign
(Sep 11, 2020)
criteria provided, single submitterVCV001114701
43.
GRCh37:
Chr6:74304848
GRCh38:
Chr6:73595125
SLC17A5V450A, V513ASalla diseaseLikely benign
(Sep 12, 2019)
criteria provided, single submitterVCV001140357
44.
GRCh37:
Chr6:74304856
GRCh38:
Chr6:73595133
SLC17A5A478TSalla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357920
45.
GRCh37:
Chr6:74304857
GRCh38:
Chr6:73595134
SLC17A5S447L, S510LSalla diseaseLikely benign
(Aug 1, 2019)
criteria provided, single submitterVCV001135074
46.
GRCh37:
Chr6:74304860
GRCh38:
Chr6:73595137
SLC17A5Y446C, Y509CSalla diseaseLikely benign
(Sep 2, 2020)
criteria provided, single submitterVCV001115691
47.
GRCh37:
Chr6:74304861-74304871
GRCh38:
Chr6:73595138-73595148
SLC17A5F473fsSalla diseaseUncertain significance
(Dec 27, 2016)
criteria provided, single submitterVCV000550257
48.
GRCh37:
Chr6:74304862
GRCh38:
Chr6:73595139
SLC17A5Salla diseaseLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV001103855
49.
GRCh37:
Chr6:74304863
GRCh38:
Chr6:73595140
SLC17A5H445R, H508RSalla diseaseLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001108000
50.
GRCh37:
Chr6:74304866
GRCh38:
Chr6:73595143
SLC17A5L444S, L507SSalla diseaseLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001116024
51.
GRCh37:
Chr6:74304921
GRCh38:
Chr6:73595198
SLC17A5W456*Salla diseaseUncertain significance
(May 23, 2018)
criteria provided, single submitterVCV000558449
52.
GRCh37:
Chr6:74304923
GRCh38:
Chr6:73595200
SLC17A5Salla diseaseLikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV000727756
53.
GRCh37:
Chr6:74304930
GRCh38:
Chr6:73595207
SLC17A5V453GSalla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357921
54.
GRCh37:
Chr6:74304932-74304933
GRCh38:
Chr6:73595209-73595210
SLC17A5V453fsSalla diseaseConflicting interpretations of pathogenicity
(May 15, 2020)
criteria provided, conflicting interpretationsVCV000558174
55.
GRCh37:
Chr6:74304939
GRCh38:
Chr6:73595216
SLC17A5Salla diseaseUncertain significance
(Jul 31, 2017)
criteria provided, single submitterVCV000552969
56.
GRCh37:
Chr6:74304942
GRCh38:
Chr6:73595219
SLC17A5Salla diseaseLikely benign
(Feb 4, 2020)
criteria provided, single submitterVCV001155823
57.
GRCh37:
Chr6:74304946
GRCh38:
Chr6:73595223
SLC17A5Salla diseaseLikely benign
(Jan 21, 2020)
criteria provided, single submitterVCV001084643
58.
GRCh37:
Chr6:74304960
GRCh38:
Chr6:73595237
SLC17A5not providedLikely benign
(Oct 19, 2019)
criteria provided, single submitterVCV001179380
59.
GRCh37:
Chr6:74305013
GRCh38:
Chr6:73595290
SLC17A5not providedLikely benign
(May 14, 2019)
criteria provided, single submitterVCV001192927
60.
GRCh37:
Chr6:74309812
GRCh38:
Chr6:73600089
SLC17A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000672112
61.
GRCh37:
Chr6:74310066
GRCh38:
Chr6:73600343
SLC17A5Salla diseaseLikely benign
(Jun 3, 2020)
criteria provided, single submitterVCV001123269
62.
GRCh37:
Chr6:74310073
GRCh38:
Chr6:73600350
SLC17A5Salla diseaseLikely pathogenic
(Jun 9, 2016)
criteria provided, single submitterVCV000371032
63.
GRCh37:
Chr6:74310096-74310097
GRCh38:
Chr6:73600373-73600374
SLC17A5I443fsSalla diseaseUncertain significance
(Sep 18, 2017)
criteria provided, single submitterVCV000553893
64.
GRCh37:
Chr6:74310100
GRCh38:
Chr6:73600377
SLC17A5V442ISalla disease, Sialic acid storage disease, severe infantile type, not provided,
not specified
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000235209
65.
GRCh37:
Chr6:74310102
GRCh38:
Chr6:73600379
SLC17A5P441LSalla diseaseUncertain significance
(Feb 5, 2019)
criteria provided, single submitterVCV000851588
66.
GRCh37:
Chr6:74310129
GRCh38:
Chr6:73600406
SLC17A5F432Snot provided, Salla disease, Sialic acid storage disease, severe infantile type
Uncertain significance
(Mar 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000809967
67.
GRCh37:
Chr6:74310146
GRCh38:
Chr6:73600423
SLC17A5Salla diseaseUncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000991157
68.
GRCh37:
Chr6:74310152
GRCh38:
Chr6:73600429
SLC17A5Salla disease, not providedLikely benign
(Dec 26, 2018)
criteria provided, single submitterVCV000797209
69.
GRCh37:
Chr6:74310152
GRCh38:
Chr6:73600429
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeConflicting interpretations of pathogenicity
(Nov 2, 2020)
criteria provided, conflicting interpretationsVCV000357922
70.
GRCh37:
Chr6:74310163
GRCh38:
Chr6:73600440
SLC17A5Y421NSalla diseaseUncertain significance
(Apr 9, 2019)
criteria provided, single submitterVCV000863775
71.
GRCh37:
Chr6:74310168
GRCh38:
Chr6:73600445
SLC17A5Salla diseaseLikely benign
(Aug 30, 2020)
criteria provided, single submitterVCV001116877
72.
GRCh37:
Chr6:74310170
GRCh38:
Chr6:73600447
SLC17A5Salla diseaseLikely benign
(Oct 4, 2020)
criteria provided, single submitterVCV001139466
73.
GRCh37:
Chr6:74310232
GRCh38:
Chr6:73600509
SLC17A5not providedBenign
(Aug 22, 2019)
criteria provided, single submitterVCV001275064
74.
GRCh37:
Chr6:74310232-74310233
GRCh38:
Chr6:73600509-73600510
SLC17A5not providedLikely benign
(Aug 22, 2019)
criteria provided, single submitterVCV001217931
75.
GRCh37:
Chr6:74320121
GRCh38:
Chr6:73610398
SLC17A5not providedPathogenic
(Mar 2, 2017)
criteria provided, single submitterVCV000420186
76.
GRCh37:
Chr6:74320122
GRCh38:
Chr6:73610399
SLC17A5Salla diseaseLikely pathogenic
(Aug 18, 2017)
criteria provided, single submitterVCV000553387
77.
GRCh37:
Chr6:74320122
GRCh38:
Chr6:73610399
SLC17A5Sialic acid storage disease, severe infantile type, Salla diseaseLikely pathogenic
(Nov 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000370393
78.
GRCh37:
Chr6:74320156
GRCh38:
Chr6:73610433
SLC17A5G409ESalla diseaseLikely pathogenicno assertion criteria providedVCV000056553
79.
GRCh37:
Chr6:74320159
GRCh38:
Chr6:73610436
SLC17A5S408fsnot providedLikely pathogenic
(Mar 1, 2017)
criteria provided, single submitterVCV000444691
80.
GRCh37:
Chr6:74320174
GRCh38:
Chr6:73610451
SLC17A5G403fsSalla diseaseLikely pathogenic
(Jun 4, 2018)
criteria provided, single submitterVCV000558681
81.
GRCh37:
Chr6:74320190
GRCh38:
Chr6:73610467
SLC17A5I398VSalla disease, Sialic acid storage disease, severe infantile typeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357923
82.
GRCh37:
Chr6:74320205
GRCh38:
Chr6:73610482
SLC17A5V393ISalla disease, Sialic acid storage disease, severe infantile type, not provided,
Focal segmental glomerulosclerosis
Uncertain significance
(Feb 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000558967
83.
GRCh37:
Chr6:74320206
GRCh38:
Chr6:73610483
SLC17A5Salla disease, Sialic acid storage disease, severe infantile typeConflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000909515
84.
GRCh37:
Chr6:74320215
GRCh38:
Chr6:73610492
SLC17A5Salla diseaseLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV001121443
85.
GRCh37:
Chr6:74320242
GRCh38:
Chr6:73610519
SLC17A5Salla diseaseLikely benign
(Mar 12, 2019)
criteria provided, single submitterVCV001147631
86.
GRCh37:
Chr6:74320243-74320244
GRCh38:
Chr6:73610520-73610521
SLC17A5V380fsSalla diseasePathogenic/Likely pathogenic
(Aug 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000056552
87.
GRCh37:
Chr6:74320244
GRCh38:
Chr6:73610521
SLC17A5V380ISalla diseaseUncertain significance
(May 1, 2018)
criteria provided, single submitterVCV000568458
88.
GRCh37:
Chr6:74320255
GRCh38:
Chr6:73610532
SLC17A5A376fsSalla diseaseLikely pathogenic
(Aug 3, 2016)
criteria provided, single submitterVCV000371232
89.
GRCh37:
Chr6:74320261
GRCh38:
Chr6:73610538
SLC17A5G374fsSalla diseasePathogenic/Likely pathogenic
(Feb 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000371242
90.
GRCh37:
Chr6:74320278
GRCh38:
Chr6:73610555
SLC17A5Salla diseaseLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000727312
91.
GRCh37:
Chr6:74320306
GRCh38:
Chr6:73610583
SLC17A5Salla disease, Sialic acid storage disease, severe infantile type, not provided
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV001185211
92.
GRCh37:
Chr6:74320391
GRCh38:
Chr6:73610668
SLC17A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000672111
93.
GRCh37:
Chr6:74320414-74320415
GRCh38:
Chr6:73610691-73610692
SLC17A5not providedBenign
(Aug 26, 2019)
criteria provided, single submitterVCV001280651
94.
GRCh37:
Chr6:74320415
GRCh38:
Chr6:73610692
SLC17A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV001233477
95.
GRCh37:
Chr6:74324806
GRCh38:
Chr6:73615083
SLC17A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000672110
96.
GRCh37:
Chr6:74324901
GRCh38:
Chr6:73615178
SLC17A5not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000672021
97.
GRCh37:
Chr6:74325031
GRCh38:
Chr6:73615308
SLC17A5not provided, not specified, Salla disease,
Sialic acid storage disease, severe infantile type
Benign/Likely benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000357924
98.
GRCh37:
Chr6:74325036-74325040
GRCh38:
Chr6:73615313-73615317
SLC17A5Salla diseaseLikely pathogenic
(Apr 24, 2019)
criteria provided, single submitterVCV000946190
99.
GRCh37:
Chr6:74325037
GRCh38:
Chr6:73615314
SLC17A5SLC17A5-Related Disorders, Salla diseaseConflicting interpretations of pathogenicity
(Jul 30, 2020)
criteria provided, conflicting interpretationsVCV000631989
100.
GRCh37:
Chr6:74325090
GRCh38:
Chr6:73615367
SLC17A5Salla diseaseLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000759229
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