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Links from MedGen

Items: 92

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:66481791
GRCh38:
Chr11:66714320
SPTBN2A191S, A198SSpinocerebellar ataxia type 5Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr11:66476483
GRCh38:
Chr11:66709012
SPTBN2E361K, E368KSpinocerebellar ataxia type 5Uncertain significance
(May 11, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr11:66457739
GRCh38:
Chr11:66690268
SPTBN2D1861fs, D1868fsSpinocerebellar ataxia type 5Pathogenic
(Apr 27, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr11:66466556
GRCh38:
Chr11:66699085
SPTBN2Spinocerebellar ataxia type 5Uncertain significance
(Jun 1, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr11:66453475
GRCh38:
Chr11:66686004
SPTBN2R2347Q, R2354QSpinocerebellar ataxia type 5, not providedConflicting interpretations of pathogenicity
(Dec 7, 2022)		criteria provided, conflicting interpretations
6.
GRCh37:
Chr11:66456125
GRCh38:
Chr11:66688654
SPTBN2A2077V, A2084VAutosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5Likely pathogenic
(Jun 7, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr11:66482698
GRCh38:
Chr11:66715227
SPTBN2F160L, F167LSpinocerebellar ataxia type 5Uncertain significance
(Mar 15, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr11:66472556
GRCh38:
Chr11:66705085
SPTBN2R731W, R738WSpinocerebellar ataxia type 5Uncertain significance
(Mar 22, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr11:66453471
GRCh38:
Chr11:66686000
SPTBN2Spinocerebellar ataxia type 5Uncertain significance
(Mar 18, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr11:66472189
GRCh38:
Chr11:66704718
SPTBN2A853VSpinocerebellar ataxia type 5, not providedConflicting interpretations of pathogenicity
(Oct 6, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr11:66483417
GRCh38:
Chr11:66715946
SPTBN2K65QSpinocerebellar ataxia type 5Likely pathogenic
(Oct 1, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr11:66472531
GRCh38:
Chr11:66705060
SPTBN2R739Hnot provided, Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
Uncertain significance
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:66481182
GRCh38:
Chr11:66713711
SPTBN2C231YAutosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5, not provided,
Inborn genetic diseases		Uncertain significance
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr11:66460141
GRCh38:
Chr11:66692670
SPTBN2R1686GSpinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Uncertain significance
(Jun 22, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr11:66458849-66458850
GRCh38:
Chr11:66691378-66691379
SPTBN2Inborn genetic diseases, Spinocerebellar ataxia type 5Uncertain significance
(Mar 26, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:66456627
GRCh38:
Chr11:66689156
SPTBN2Q1992*Spinocerebellar ataxia type 5Likely pathogenic
(Jan 3, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr11:66475118
GRCh38:
Chr11:66707647
SPTBN2N508Hnot providedConflicting interpretations of pathogenicity
(Nov 22, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:66456186
GRCh38:
Chr11:66688715
SPTBN2A2057SSpinocerebellar ataxia type 5Uncertain significance
(Jul 22, 2021)		no assertion criteria provided
19.
GRCh37:
Chr11:66469032
GRCh38:
Chr11:66701561
SPTBN2not provided, Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
Benign
(Jul 15, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:66483265
GRCh38:
Chr11:66715794
SPTBN2not provided, Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
Benign
(Jul 15, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:66481264
GRCh38:
Chr11:66713793
SPTBN2Autosomal recessive spinocerebellar ataxia 14, not provided, Spinocerebellar ataxia type 5
Benign
(Jul 15, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:66453476
GRCh38:
Chr11:66686005
SPTBN2R2347WSpinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr11:66466460
GRCh38:
Chr11:66698989
SPTBN2Spinocerebellar ataxia type 5Uncertain significance
(Mar 22, 2021)		no assertion criteria provided
24.
GRCh37:
Chr11:66478461
GRCh38:
Chr11:66710990
SPTBN2T271ISpinocerebellar ataxia type 5Likely pathogenic
(Jun 4, 2020)		criteria provided, single submitter
25.
GRCh37:
Chr11:66478505
GRCh38:
Chr11:66711034
SPTBN2Spinocerebellar ataxia type 5Uncertain significance
(Apr 9, 2019)		criteria provided, single submitter
26.
GRCh37:
Chr11:66461755
GRCh38:
Chr11:66694284
SPTBN2D1453VSpinocerebellar ataxia type 5Likely pathogenic
(Aug 17, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr11:66472735
GRCh38:
Chr11:66705264
SPTBN2R671Qnot provided, Spinocerebellar ataxia type 5Uncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:66475091
GRCh38:
Chr11:66707620
SPTBN2R517GSpinocerebellar ataxia type 5Uncertain significance
(Jun 9, 2020)		criteria provided, single submitter
29.
GRCh37:
Chr11:66460131
GRCh38:
Chr11:66692660
SPTBN2R1689Hnot provided, Spinocerebellar ataxia type 5Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr11:66455029
GRCh38:
Chr11:66687558
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Uncertain significance
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:66468574
GRCh38:
Chr11:66701103
SPTBN2R999HSpinocerebellar ataxia type 5Uncertain significancecriteria provided, single submitter
32.
GRCh37:
Chr11:66453412
GRCh38:
Chr11:66685941
SPTBN2V2368ASpinocerebellar ataxia type 5Uncertain significance
(Jan 1, 2019)		criteria provided, single submitter
33.
GRCh37:
Chr11:66468334
GRCh38:
Chr11:66700863
SPTBN2A1079VSpinocerebellar ataxia type 5Uncertain significance
(Nov 7, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr11:66453419
GRCh38:
Chr11:66685948
SPTBN2P2366SSpinocerebellar ataxia type 5Uncertain significance
(May 7, 2019)		criteria provided, single submitter
35.
GRCh37:
Chr11:66478225
GRCh38:
Chr11:66710754
SPTBN2M301VSpinocerebellar ataxia type 5Uncertain significance
(Mar 15, 2020)		criteria provided, single submitter
36.
GRCh37:
Chr11:66460216
GRCh38:
Chr11:66692745
SPTBN2Spinocerebellar ataxia type 5Uncertain significance
(Mar 1, 2019)		criteria provided, single submitter
37.
GRCh37:
Chr11:66458816
GRCh38:
Chr11:66691345
SPTBN2A1835VSpinocerebellar ataxia type 5Uncertain significance
(Aug 22, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr11:66455084
GRCh38:
Chr11:66687613
SPTBN2R2179Qnot provided, Spinocerebellar ataxia type 5Conflicting interpretations of pathogenicity
(Jun 13, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr11:66454932
GRCh38:
Chr11:66687461
SPTBN2E2230QSpinocerebellar ataxia type 5Uncertain significance
(Mar 6, 2019)		criteria provided, single submitter
40.
GRCh37:
Chr11:66475653
GRCh38:
Chr11:66708182
SPTBN2R437Wnot provided, Spinocerebellar ataxia type 5Pathogenic/Likely pathogenic
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:66472774
GRCh38:
Chr11:66705303
SPTBN2R658QSpinocerebellar ataxia type 5Conflicting interpretations of pathogenicity
(May 3, 2020)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr11:66455127
GRCh38:
Chr11:66687656
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Conflicting interpretations of pathogenicity
(Mar 23, 2018)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr11:66453915
GRCh38:
Chr11:66686444
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr11:66456332
GRCh38:
Chr11:66688861
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr11:66454652
GRCh38:
Chr11:66687181
SPTBN2not provided, Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
Benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:66478074
GRCh38:
Chr11:66710603
SPTBN2R351PSpinocerebellar ataxia type 5Likely pathogenic
(Dec 27, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr11:66476404
GRCh38:
Chr11:66708933
SPTBN2R387Hnot provided, Spinocerebellar ataxia type 5Uncertain significance
(Sep 24, 2020)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:66475684-66475686
GRCh38:
Chr11:66708213-66708215
SPTBN2L426delSpinocerebellar ataxia type 5Likely pathogenic
(Aug 26, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr11:66454622
GRCh38:
Chr11:66687151
SPTBN2Y2247Hnot provided, Spinocerebellar ataxia type 5Conflicting interpretations of pathogenicity
(Sep 28, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr11:66453406
GRCh38:
Chr11:66685935
SPTBN2R2370HInborn genetic diseases, Autosomal recessive spinocerebellar ataxia 14, not provided
Conflicting interpretations of pathogenicity
(Jun 19, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr11:66466195
GRCh38:
Chr11:66698724
SPTBN2R1310Hnot providedUncertain significance
(Aug 31, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr11:66456246
GRCh38:
Chr11:66688775
SPTBN2R2037Cnot providedLikely benign
(Jun 26, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr11:66475652
GRCh38:
Chr11:66708181
SPTBN2R437Qnot provided, Spinocerebellar ataxia type 5Pathogenic/Likely pathogenic
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:66475639
GRCh38:
Chr11:66708168
SPTBN2not specified, Spinocerebellar ataxia type 5Benign/Likely benign
(May 7, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:66475184
GRCh38:
Chr11:66707713
SPTBN2A486Tnot provided, Spinocerebellar ataxia type 5, Inborn genetic diseases,
not specified		Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr11:66466530
GRCh38:
Chr11:66699059
SPTBN2A1267Vnot provided, Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
Conflicting interpretations of pathogenicity
(Oct 10, 2023)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr11:66472870
GRCh38:
Chr11:66705399
SPTBN2L626PSpinocerebellar ataxia type 5, not specified, not provided
Conflicting interpretations of pathogenicity
(Dec 21, 2021)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr11:66472274
GRCh38:
Chr11:66704803
SPTBN2Spinocerebellar ataxia type 5, not providedBenign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:66475224
GRCh38:
Chr11:66707753
SPTBN2Spinocerebellar ataxia type 5, not providedBenign/Likely benign
(Jul 28, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:66475655
GRCh38:
Chr11:66708184
SPTBN2M436Tnot provided, Spinocerebellar ataxia type 5Likely pathogenic
(Jan 12, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:66488620
GRCh38:
Chr11:66721149
SPTBN2S31Lnot provided, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 14,
Spinocerebellar ataxia type 5		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr11:66454625
GRCh38:
Chr11:66687154
SPTBN2V2246Mnot specified, Inborn genetic diseases, Spinocerebellar ataxia type 5
Uncertain significance
(May 1, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:66466931
GRCh38:
Chr11:66699460
SPTBN2E1241Gnot specified, Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14,
not provided		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr11:66475006-66475044
GRCh38:
Chr11:66707535-66707573
SPTBN2Spinocerebellar ataxia type 5, not providedPathogenic
(Nov 25, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:66488743
GRCh38:
Chr11:66721272
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr11:66483325
GRCh38:
Chr11:66715854
SPTBN2Spinocerebellar ataxia type 5, Autosomal dominant cerebellar ataxia, not provided
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:66481224
GRCh38:
Chr11:66713753
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr11:66478383
GRCh38:
Chr11:66710912
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:66475296
GRCh38:
Chr11:66707825
SPTBN2Spinocerebellar ataxia type 5, not specified, Autosomal recessive spinocerebellar ataxia 14,
not provided		Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:66475296
GRCh38:
Chr11:66707825
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:66473321
GRCh38:
Chr11:66705850
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr11:66469188
GRCh38:
Chr11:66701717
SPTBN2E895KAutosomal dominant cerebellar ataxia, Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
Uncertain significance
(Sep 27, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:66468454
GRCh38:
Chr11:66700983
SPTBN2R1039Qnot specified, Autosomal dominant cerebellar ataxia, not provided,
Spinocerebellar ataxia type 5		Conflicting interpretations of pathogenicity
(Apr 1, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr11:66461842
GRCh38:
Chr11:66694371
SPTBN2Autosomal recessive spinocerebellar ataxia 14, not provided, Spinocerebellar ataxia type 5
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:66460430
GRCh38:
Chr11:66692959
SPTBN2Spinocerebellar ataxia type 5, not provided, Autosomal recessive spinocerebellar ataxia 14
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:66460429
GRCh38:
Chr11:66692958
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr11:66456660
GRCh38:
Chr11:66689189
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr11:66456659
GRCh38:
Chr11:66689188
SPTBN2Autosomal recessive spinocerebellar ataxia 14, not provided, not specified,
Spinocerebellar ataxia type 5		Benign/Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:66455772
GRCh38:
Chr11:66688301
SPTBN2R2081QAutosomal dominant cerebellar ataxia, Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5,
Inborn genetic diseases, not provided		Conflicting interpretations of pathogenicity
(Mar 17, 2023)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr11:66455625
GRCh38:
Chr11:66688154
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr11:66454951
GRCh38:
Chr11:66687480
SPTBN2Autosomal dominant cerebellar ataxia, not provided, Autosomal recessive spinocerebellar ataxia 14,
Spinocerebellar ataxia type 5		Benign/Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:66454649
GRCh38:
Chr11:66687178
SPTBN2Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr11:66454454
GRCh38:
Chr11:66686983
SPTBN2Spinocerebellar ataxia type 5, not provided, Autosomal recessive spinocerebellar ataxia 14
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr11:66453495
GRCh38:
Chr11:66686024
SPTBN2Autosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 5, not provided
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:66472274
GRCh38:
Chr11:66704803
SPTBN2S825GAutosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5, not provided,
not specified		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:66482706
GRCh38:
Chr11:66715235
SPTBN2I157TSpinocerebellar ataxia type 5Likely pathogenic
(Apr 12, 2016)		criteria provided, single submitter
87.
GRCh37:
Chr11:66488550
GRCh38:
Chr11:66721079
SPTBN2Autosomal recessive spinocerebellar ataxia 14, not provided, Spinocerebellar ataxia type 5
Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr11:66481633
GRCh38:
Chr11:66714162
SPTBN2Autosomal dominant cerebellar ataxia, not provided, Spinocerebellar ataxia type 5
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:66468469
GRCh38:
Chr11:66700998
SPTBN2V1034AAutosomal dominant cerebellar ataxia, not specified, not provided,
Spinocerebellar ataxia type 5		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr11:66475202
GRCh38:
Chr11:66707731
SPTBN2R480Wnot provided, Spinocerebellar ataxia type 5Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr11:66481116
GRCh38:
Chr11:66713645
SPTBN2L253Pnot providedPathogenic
(Sep 15, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr11:66472847-66472861
GRCh38:
Chr11:66705376-66705390
SPTBN2Spinocerebellar ataxia type 5Pathogenic
(Feb 1, 2006)		no assertion criteria provided
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