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Items: 1 to 100 of 1822

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr13:23902983
GRCh38:
Chr13:23328844
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000311489
2.
GRCh37:
Chr13:23903075
GRCh38:
Chr13:23328936
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000311490
3.
GRCh37:
Chr13:23903113
GRCh38:
Chr13:23328974
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883093
4.
GRCh37:
Chr13:23903133
GRCh38:
Chr13:23328994
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883094
5.
GRCh37:
Chr13:23903167
GRCh38:
Chr13:23329028
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883095
6.
GRCh37:
Chr13:23903236
GRCh38:
Chr13:23329097
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883096
7.
GRCh37:
Chr13:23903333
GRCh38:
Chr13:23329194
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000311492
8.
GRCh37:
Chr13:23903356
GRCh38:
Chr13:23329217
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883866
9.
GRCh37:
Chr13:23903359
GRCh38:
Chr13:23329220
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883867
10.
GRCh37:
Chr13:23903393
GRCh38:
Chr13:23329254
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000311493
11.
GRCh37:
Chr13:23903454
GRCh38:
Chr13:23329315
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883868
12.
GRCh37:
Chr13:23903498
GRCh38:
Chr13:23329359
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883869
13.
GRCh37:
Chr13:23903559
GRCh38:
Chr13:23329420
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883870
14.
GRCh37:
Chr13:23903564
GRCh38:
Chr13:23329425
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883871
15.
GRCh37:
Chr13:23903650
GRCh38:
Chr13:23329511
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880575
16.
GRCh37:
Chr13:23903706
GRCh38:
Chr13:23329567
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880576
17.
GRCh37:
Chr13:23903814
GRCh38:
Chr13:23329675
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880577
18.
GRCh37:
Chr13:23903881
GRCh38:
Chr13:23329742
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880578
19.
GRCh37:
Chr13:23903968
GRCh38:
Chr13:23329829
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000311496
20.
GRCh37:
Chr13:23904053
GRCh38:
Chr13:23329914
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881990
21.
GRCh37:
Chr13:23904057
GRCh38:
Chr13:23329918
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881991
22.
GRCh37:
Chr13:23904255
GRCh38:
Chr13:23330116
SACSCharlevoix-Saguenay spastic ataxia, not providedLikely benign
(Dec 26, 2019)
criteria provided, multiple submitters, no conflictsVCV000554274
23.
GRCh37:
Chr13:23904276-23904277
GRCh38:
Chr13:23330137-23330138
SACSSpastic paraplegia, not provided, Charlevoix-Saguenay spastic ataxia
Uncertain significance
(Sep 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000504206
24.
GRCh37:
Chr13:23904280
GRCh38:
Chr13:23330141
SACSV4432M, V4579MSpastic paraplegiaLikely benign
(Oct 18, 2020)
criteria provided, single submitterVCV001110465
25.
GRCh37:
Chr13:23904298
GRCh38:
Chr13:23330159
SACSN4573H, N4426HSpastic paraplegia, not specified, not provided,
Hereditary spastic paraplegia, Charlevoix-Saguenay spastic ataxia
Conflicting interpretations of pathogenicity
(Aug 10, 2021)
criteria provided, conflicting interpretationsVCV000193707
26.
GRCh37:
Chr13:23904311
GRCh38:
Chr13:23330172
SACSSpastic paraplegiaLikely benign
(Mar 29, 2020)
criteria provided, single submitterVCV001145040
27.
GRCh37:
Chr13:23904321
GRCh38:
Chr13:23330182
SACSA4418D, A4565DSpastic paraplegiaUncertain significance
(Jun 18, 2019)
criteria provided, single submitterVCV000938190
28.
GRCh37:
Chr13:23904323
GRCh38:
Chr13:23330184
SACSSpastic paraplegiaLikely benign
(Aug 20, 2020)
criteria provided, single submitterVCV001148206
29.
GRCh37:
Chr13:23904329
GRCh38:
Chr13:23330190
SACSSpastic paraplegiaLikely benign
(Apr 26, 2020)
criteria provided, single submitterVCV001142562
30.
GRCh37:
Chr13:23904370
GRCh38:
Chr13:23330231
SACSN4549D, N4402DCharlevoix-Saguenay spastic ataxiaUncertain significance
(Oct 16, 2017)
criteria provided, single submitterVCV000554337
31.
GRCh37:
Chr13:23904400
GRCh38:
Chr13:23330261
SACSP4539S, P4392Snot providedLikely pathogenic
(Feb 21, 2017)
criteria provided, single submitterVCV000496951
32.
GRCh37:
Chr13:23904401
GRCh38:
Chr13:23330262
SACSSpastic paraplegiaLikely benign
(Aug 14, 2020)
criteria provided, single submitterVCV001116827
33.
GRCh37:
Chr13:23904401
GRCh38:
Chr13:23330262
SACSY4538*, Y4391*Spastic paraplegiaLikely pathogenic
(Dec 7, 2019)
criteria provided, single submitterVCV000842578
34.
GRCh37:
Chr13:23904401
GRCh38:
Chr13:23330262
SACSY4538*, Y4391*Charlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 8, 2018)
criteria provided, single submitterVCV000555872
35.
GRCh37:
Chr13:23904425
GRCh38:
Chr13:23330286
SACSnot providedLikely benign
(Jun 2, 2020)
criteria provided, single submitterVCV000994933
36.
GRCh37:
Chr13:23904427
GRCh38:
Chr13:23330288
SACSG4383C, G4530CCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jun 9, 2021)
criteria provided, single submitterVCV001172523
37.
GRCh37:
Chr13:23904441
GRCh38:
Chr13:23330302
SACST4525R, T4378RSpastic paraplegiaUncertain significance
(Apr 21, 2017)
criteria provided, single submitterVCV000458254
38.
GRCh37:
Chr13:23904446
GRCh38:
Chr13:23330307
SACSSpastic paraplegiaLikely benign
(Nov 9, 2019)
criteria provided, single submitterVCV001157956
39.
GRCh37:
Chr13:23904452
GRCh38:
Chr13:23330313
SACSSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaConflicting interpretations of pathogenicity
(Sep 5, 2021)
criteria provided, conflicting interpretationsVCV000881992
40.
GRCh37:
Chr13:23904475
GRCh38:
Chr13:23330336
SACSQ4514*, Q4367*Charlevoix-Saguenay spastic ataxiaUncertain significance
(May 23, 2018)
criteria provided, single submitterVCV000558492
41.
GRCh37:
Chr13:23904477
GRCh38:
Chr13:23330338
SACSS4513N, S4366Nnot specified, Charlevoix-Saguenay spastic ataxiaUncertain significance
(Nov 29, 2016)
criteria provided, single submitterVCV000373337
42.
GRCh37:
Chr13:23904479
GRCh38:
Chr13:23330340
SACSSpastic paraplegia, not providedLikely benign
(Sep 17, 2020)
criteria provided, single submitterVCV000696840
43.
GRCh37:
Chr13:23904482
GRCh38:
Chr13:23330343
SACSSpastic paraplegiaLikely benign
(Nov 9, 2019)
criteria provided, single submitterVCV001077356
44.
GRCh37:
Chr13:23904487-23904488
GRCh38:
Chr13:23330348-23330349
SACSE4510fs, E4363fsCharlevoix-Saguenay spastic ataxiaPathogenic
(Aug 13, 2014)
criteria provided, single submitterVCV000212110
45.
GRCh37:
Chr13:23904503
GRCh38:
Chr13:23330364
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000311497
46.
GRCh37:
Chr13:23904506
GRCh38:
Chr13:23330367
SACSCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaLikely benign
(May 14, 2020)
criteria provided, single submitterVCV000989608
47.
GRCh37:
Chr13:23904509
GRCh38:
Chr13:23330370
SACSSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaLikely benign
(Oct 7, 2020)
criteria provided, single submitterVCV000751427
48.
GRCh37:
Chr13:23904515
GRCh38:
Chr13:23330376
SACSSpastic paraplegiaLikely benign
(May 15, 2020)
criteria provided, single submitterVCV001119826
49.
GRCh37:
Chr13:23904533
GRCh38:
Chr13:23330394
SACSSpastic paraplegiaLikely benign
(May 24, 2020)
criteria provided, single submitterVCV001151346
50.
GRCh37:
Chr13:23904539
GRCh38:
Chr13:23330400
SACSSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaConflicting interpretations of pathogenicity
(Jul 22, 2021)
criteria provided, conflicting interpretationsVCV001138697
51.
GRCh37:
Chr13:23904541
GRCh38:
Chr13:23330402
SACSV4492M, V4345MSpastic paraplegiaUncertain significance
(Nov 14, 2017)
criteria provided, single submitterVCV000527999
52.
GRCh37:
Chr13:23904542
GRCh38:
Chr13:23330403
SACSSpastic paraplegiaLikely benign
(Dec 6, 2019)
criteria provided, single submitterVCV001143457
53.
GRCh37:
Chr13:23904561
GRCh38:
Chr13:23330422
SACSL4485S, L4338SCharlevoix-Saguenay spastic ataxiaPathogenic
(Dec 30, 2017)
criteria provided, single submitterVCV000623376
54.
GRCh37:
Chr13:23904572
GRCh38:
Chr13:23330433
SACSSpastic paraplegiaLikely benign
(Oct 20, 2020)
criteria provided, single submitterVCV000416835
55.
GRCh37:
Chr13:23904596
GRCh38:
Chr13:23330457
SACSSpastic paraplegiaLikely benign
(Jun 1, 2020)
criteria provided, single submitterVCV001119479
56.
GRCh37:
Chr13:23904606
GRCh38:
Chr13:23330467
SACSN4323S, N4470SCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000883158
57.
GRCh37:
Chr13:23904610
GRCh38:
Chr13:23330471
SACSA4469P, A4322PCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jan 22, 2018)
criteria provided, single submitterVCV000556241
58.
GRCh37:
Chr13:23904622
GRCh38:
Chr13:23330483
SACSL4465fs, L4318fsCharlevoix-Saguenay spastic ataxiaUncertain significance
(Oct 3, 2017)
criteria provided, single submitterVCV000554193
59.
GRCh37:
Chr13:23904636-23904637
GRCh38:
Chr13:23330497-23330498
SACSA4460Y, A4313YSpastic paraplegiaUncertain significance
(Feb 23, 2018)
criteria provided, single submitterVCV000581464
60.
GRCh37:
Chr13:23904641
GRCh38:
Chr13:23330502
SACSSpastic paraplegia, not specifiedBenign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000695534
61.
GRCh37:
Chr13:23904655
GRCh38:
Chr13:23330516
SACSA4307fs, A4454fsCharlevoix-Saguenay spastic ataxiaUncertain significance
(May 23, 2018)
criteria provided, single submitterVCV000558482
62.
GRCh37:
Chr13:23904666
GRCh38:
Chr13:23330527
SACSW4450*, W4303*Charlevoix-Saguenay spastic ataxiaUncertain significance
(Jun 9, 2017)
criteria provided, single submitterVCV000552434
63.
GRCh37:
Chr13:23904671
GRCh38:
Chr13:23330532
SACSSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaConflicting interpretations of pathogenicity
(Sep 5, 2021)
criteria provided, conflicting interpretationsVCV000883159
64.
GRCh37:
Chr13:23904677
GRCh38:
Chr13:23330538
SACSSpastic paraplegiaLikely benign
(Feb 17, 2020)
criteria provided, single submitterVCV001160122
65.
GRCh37:
Chr13:23904695
GRCh38:
Chr13:23330556
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000989609
66.
GRCh37:
Chr13:23904710
GRCh38:
Chr13:23330571
SACSSpastic paraplegiaLikely benign
(Mar 29, 2020)
criteria provided, single submitterVCV001109376
67.
GRCh37:
Chr13:23904731
GRCh38:
Chr13:23330592
SACSCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaLikely benign
(Jul 30, 2020)
criteria provided, single submitterVCV000731826
68.
GRCh37:
Chr13:23904731
GRCh38:
Chr13:23330592
SACSY4428*, Y4281*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Nov 13, 2017)
criteria provided, single submitterVCV000555066
69.
GRCh37:
Chr13:23904731-23904732
GRCh38:
Chr13:23330592-23330593
SACSY4281*, Y4428*Spastic paraplegia, Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jun 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000371248
70.
GRCh37:
Chr13:23904733
GRCh38:
Chr13:23330594
SACSY4428D, Y4281DCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000311498
71.
GRCh37:
Chr13:23904734
GRCh38:
Chr13:23330595
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883160
72.
GRCh37:
Chr13:23904739
GRCh38:
Chr13:23330600
SACSQ4426*, Q4279*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 6, 2018)
criteria provided, single submitterVCV000556998
73.
GRCh37:
Chr13:23904742
GRCh38:
Chr13:23330603
SACSG4278R, G4425Rnot providedUncertain significance
(Dec 27, 2018)
criteria provided, single submitterVCV000805288
74.
GRCh37:
Chr13:23904743
GRCh38:
Chr13:23330604
SACSCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaBenign
(Dec 1, 2020)
criteria provided, single submitterVCV000696233
75.
GRCh37:
Chr13:23904744
GRCh38:
Chr13:23330605
SACSA4277V, A4424VSpastic paraplegiaUncertain significance
(Jun 17, 2019)
criteria provided, single submitterVCV000945346
76.
GRCh37:
Chr13:23904746
GRCh38:
Chr13:23330607
SACSnot specified, Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
Conflicting interpretations of pathogenicity
(Sep 5, 2021)
criteria provided, conflicting interpretationsVCV000448192
77.
GRCh37:
Chr13:23904762-23904763
GRCh38:
Chr13:23330623-23330624
SACSE4271fs, E4418fsSpastic paraplegiaPathogenic
(Dec 21, 2019)
criteria provided, single submitterVCV000848193
78.
GRCh37:
Chr13:23904767
GRCh38:
Chr13:23330628
SACSSpastic paraplegiaLikely benign
(Aug 31, 2019)
criteria provided, single submitterVCV001146988
79.
GRCh37:
Chr13:23904784
GRCh38:
Chr13:23330645
SACSE4264K, E4411Knot providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012628
80.
GRCh37:
Chr13:23904788
GRCh38:
Chr13:23330649
SACSSpastic paraplegiaLikely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001102288
81.
GRCh37:
Chr13:23904790
GRCh38:
Chr13:23330651
SACSK4262E, K4409ESpastic paraplegiaUncertain significance
(Feb 5, 2020)
criteria provided, single submitterVCV001052634
82.
GRCh37:
Chr13:23904797
GRCh38:
Chr13:23330658
SACSSpastic paraplegiaLikely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001137346
83.
GRCh37:
Chr13:23904801
GRCh38:
Chr13:23330662
SACSA4258V, A4405VSpastic paraplegiaUncertain significance
(May 10, 2019)
criteria provided, single submitterVCV000949465
84.
GRCh37:
Chr13:23904806-23904807
GRCh38:
Chr13:23330667-23330668
SACSQ4256fs, Q4403fsSpastic paraplegiaPathogenic
(Sep 13, 2020)
criteria provided, single submitterVCV001075038
85.
GRCh37:
Chr13:23904824
GRCh38:
Chr13:23330685
SACSSpastic paraplegiaLikely benign
(Feb 21, 2020)
criteria provided, single submitterVCV001081718
86.
GRCh37:
Chr13:23904829-23904830
GRCh38:
Chr13:23330690-23330691
SACSR4249fs, R4396fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jan 18, 2018)
criteria provided, single submitterVCV000556149
87.
GRCh37:
Chr13:23904839
GRCh38:
Chr13:23330700
SACSY4245*, Y4392*not providedPathogenicno assertion criteria providedVCV001175062
88.
GRCh37:
Chr13:23904839
GRCh38:
Chr13:23330700
SACSSpastic paraplegiaLikely benign
(Sep 26, 2020)
criteria provided, single submitterVCV001078354
89.
GRCh37:
Chr13:23904851
GRCh38:
Chr13:23330712
SACSSpastic paraplegiaLikely benign
(Oct 3, 2020)
criteria provided, single submitterVCV001159749
90.
GRCh37:
Chr13:23904859
GRCh38:
Chr13:23330720
SACSR4239*, R4386*Spastic paraplegiaPathogenic
(Sep 1, 2020)
criteria provided, single submitterVCV001070396
91.
GRCh37:
Chr13:23904863
GRCh38:
Chr13:23330724
SACSSpastic paraplegiaLikely benign
(Mar 5, 2019)
criteria provided, single submitterVCV001137695
92.
GRCh37:
Chr13:23904866
GRCh38:
Chr13:23330727
SACSSpastic paraplegiaLikely benign
(Oct 19, 2019)
criteria provided, single submitterVCV001144896
93.
GRCh37:
Chr13:23904883
GRCh38:
Chr13:23330744
SACSR4378*, R4231*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Apr 12, 2016)
criteria provided, single submitterVCV000370756
94.
GRCh37:
Chr13:23904894-23904895
GRCh38:
Chr13:23330755-23330756
SACSR4227fs, R4374fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 24, 2017)
criteria provided, single submitterVCV000551194
95.
GRCh37:
Chr13:23904896
GRCh38:
Chr13:23330757
SACSSpastic paraplegiaLikely benign
(Dec 3, 2020)
criteria provided, single submitterVCV000700719
96.
GRCh37:
Chr13:23904905
GRCh38:
Chr13:23330766
SACSnot provided, Spastic paraplegiaLikely benign
(Aug 30, 2018)
criteria provided, single submitterVCV000757709
97.
GRCh37:
Chr13:23904909
GRCh38:
Chr13:23330770
SACSD4369G, D4222GSpastic paraplegiaUncertain significance
(Apr 2, 2018)
criteria provided, single submitterVCV000568055
98.
GRCh37:
Chr13:23904923
GRCh38:
Chr13:23330784
SACSSpastic paraplegiaLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001124501
99.
GRCh37:
Chr13:23904951
GRCh38:
Chr13:23330812
SACSL4208fs, L4355fsSpastic paraplegiaPathogenic
(Oct 9, 2020)
criteria provided, single submitterVCV001073580
100.
GRCh37:
Chr13:23904976
GRCh38:
Chr13:23330837
SACSI4347V, I4200Vnot specified, Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
Conflicting interpretations of pathogenicity
(Sep 5, 2021)
criteria provided, conflicting interpretationsVCV000448191
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