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Items: 1 to 100 of 126

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
THSegawa syndrome, autosomal recessivePathogenic
(Oct 1, 2007)
no assertion criteria provided
2.
THSegawa syndrome, autosomal recessivePathogenic
(Jun 1, 1999)
no assertion criteria provided
3.
GRCh37:
Chr11:2181060
GRCh38:
Chr11:2159830
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Transient Neonatal Diabetes, Dominant/Recessive
Benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr11:2181073
GRCh38:
Chr11:2159843
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, not specified,
Transient Neonatal Diabetes, Dominant/Recessive
Benign/Likely benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:2182004
GRCh38:
Chr11:2160774
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, not specified,
Transient Neonatal Diabetes, Dominant/Recessive
Benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:2182166
GRCh38:
Chr11:2160936
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Transient Neonatal Diabetes, Dominant/Recessive
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr11:2182210
GRCh38:
Chr11:2160980
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Neonatal diabetes mellitus,
not specified, Transient Neonatal Diabetes, Dominant/Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:2182224
GRCh38:
Chr11:2160994
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Transient Neonatal Diabetes, Dominant/Recessive
Benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr11:2182393-2182394
GRCh38:
Chr11:2161163-2161164
INS, TH, INS-IGF2Maturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Transient Neonatal Diabetes, Dominant/Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr11:2185186
GRCh38:
Chr11:2163956
INS, THMaturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr11:2185354
GRCh38:
Chr11:2164124
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr11:2185411
GRCh38:
Chr11:2164181
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr11:2185487
GRCh38:
Chr11:2164257
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr11:2185555
GRCh38:
Chr11:2164325
THDystonia, Inborn genetic diseasesUncertain significance
(Apr 11, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr11:2185556
GRCh38:
Chr11:2164326
INS, THMaturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Dystonia,
Transient Neonatal Diabetes, Dominant/Recessive
Benign/Likely benign
(Jul 29, 2017)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:2185557
GRCh38:
Chr11:2164327
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr11:2185569
GRCh38:
Chr11:2164339
THSegawa syndrome, autosomal recessive, Dystonia, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Jan 4, 2018)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:2185589
GRCh38:
Chr11:2164359
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr11:2185596
GRCh38:
Chr11:2164366
THnot specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr11:2186514
GRCh38:
Chr11:2165284
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Jul 18, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr11:2186518
GRCh38:
Chr11:2165288
INS, THMaturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, Dystonia,
Transient Neonatal Diabetes, Dominant/Recessive
Benign/Likely benign
(Nov 28, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:2186541
GRCh38:
Chr11:2165311
THnot specifiedUncertain significance
(Aug 22, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr11:2186889
GRCh38:
Chr11:2165659
INS, THMaturity onset diabetes mellitus in young, Segawa syndrome, autosomal recessive, not specified,
Dystonia, Transient Neonatal Diabetes, Dominant/Recessive
Benign/Likely benign
(Aug 3, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:2186928
GRCh38:
Chr11:2165698
THSegawa syndrome, autosomal recessive, not specifiedConflicting interpretations of pathogenicity
(Aug 25, 2017)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr11:2186957
GRCh38:
Chr11:2165727
THSegawa syndrome, autosomal recessive, DystoniaPathogenic/Likely pathogenic
(Feb 6, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr11:2186998
GRCh38:
Chr11:2165768
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr11:2187017
GRCh38:
Chr11:2165787
THSegawa syndrome, autosomal recessivePathogenic
(Sep 1, 2000)
no assertion criteria provided
28.
GRCh37:
Chr11:2187231
GRCh38:
Chr11:2166001
THSegawa syndrome, autosomal recessiveLikely pathogenic
(May 3, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr11:2187233
GRCh38:
Chr11:2166003
THnot providedLikely pathogenic
(Sep 16, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr11:2187267
GRCh38:
Chr11:2166037
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr11:2187722
GRCh38:
Chr11:2166492
THSegawa syndrome, autosomal recessive, not specified, Dystonia
Benign/Likely benign
(Jun 10, 2017)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:2187760
GRCh38:
Chr11:2166530
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Aug 22, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr11:2187774
GRCh38:
Chr11:2166544
THSegawa syndrome, autosomal recessivePathogenic
(Dec 1, 1999)
no assertion criteria provided
34.
GRCh37:
Chr11:2187789
GRCh38:
Chr11:2166559
THDystoniaLikely benign
(Jul 18, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr11:2187855
GRCh38:
Chr11:2166625
THSegawa syndrome, autosomal recessive, not specifiedBenign
(Apr 14, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:2187862
GRCh38:
Chr11:2166632
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Apr 5, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr11:2187919
GRCh38:
Chr11:2166689
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Feb 9, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr11:2187923
GRCh38:
Chr11:2166693
THSegawa syndrome, autosomal recessivePathogenic
(Jan 1, 2000)
no assertion criteria provided
39.
GRCh37:
Chr11:2187939
GRCh38:
Chr11:2166709
THnot specifiedUncertain significance
(Apr 19, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr11:2187943
GRCh38:
Chr11:2166713
THSegawa syndrome, autosomal recessive, DystoniaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr11:2187992
GRCh38:
Chr11:2166762
THInborn genetic diseasesUncertain significance
(Jan 4, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:2187992
GRCh38:
Chr11:2166762
THSegawa syndrome, autosomal recessivePathogenic
(Jan 1, 2000)
no assertion criteria provided
43.
GRCh37:
Chr11:2188105
GRCh38:
Chr11:2166875
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr11:2188159
GRCh38:
Chr11:2166929
THnot specifiedUncertain significance
(Jan 6, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr11:2188209
GRCh38:
Chr11:2166979
THDystoniaUncertain significance
(Feb 6, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr11:2188210
GRCh38:
Chr11:2166980
THnot specifiedUncertain significance
(Apr 13, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr11:2188225
GRCh38:
Chr11:2166995
THSegawa syndrome, autosomal recessivePathogenic
(Jan 1, 2000)
no assertion criteria provided
48.
GRCh37:
Chr11:2188229
GRCh38:
Chr11:2166999
THDystoniaLikely benign
(Mar 27, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr11:2188238
GRCh38:
Chr11:2167008
THSegawa syndrome, autosomal recessive, not specifiedBenign
(Apr 14, 2017)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:2188241
GRCh38:
Chr11:2167011
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Mar 29, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr11:2188676
GRCh38:
Chr11:2167446
THSegawa syndrome, autosomal recessive, not specified, Dystonia
Conflicting interpretations of pathogenicity
(Dec 29, 2017)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr11:2188684
GRCh38:
Chr11:2167454
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr11:2188688
GRCh38:
Chr11:2167458
THInborn genetic diseasesPathogenic
(Apr 11, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr11:2188698
GRCh38:
Chr11:2167468
THDystoniaUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr11:2188704
GRCh38:
Chr11:2167474
THnot providedLikely pathogenic
(Sep 16, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr11:2188707
GRCh38:
Chr11:2167477
THnot specified, not providedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr11:2188715
GRCh38:
Chr11:2167485
THnot specifiedUncertain significance
(Nov 16, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr11:2189113
GRCh38:
Chr11:2167883
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr11:2189126
GRCh38:
Chr11:2167896
THSegawa syndrome, autosomal recessivePathogenic/Likely pathogenic
(Nov 4, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr11:2189135
GRCh38:
Chr11:2167905
THSegawa syndrome, autosomal recessivePathogenic
(Nov 22, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:2189139
GRCh38:
Chr11:2167909
THSegawa syndrome, autosomal recessivePathogenic
(Nov 2, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr11:2189141
GRCh38:
Chr11:2167911
THnot providedUncertain significance
(Jan 31, 2017)
no assertion criteria provided
63.
GRCh37:
Chr11:2189142
GRCh38:
Chr11:2167912
THnot providedUncertain significance
(Oct 31, 2017)
no assertion criteria provided
64.
GRCh37:
Chr11:2189155
GRCh38:
Chr11:2167925
THnot providedUncertain significance
(Oct 31, 2016)
no assertion criteria provided
65.
GRCh37:
Chr11:2189161
GRCh38:
Chr11:2167931
THDystoniaBenign
(Nov 28, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr11:2189185
GRCh38:
Chr11:2167955
THnot specifiedBenigncriteria provided, single submitter
67.
GRCh37:
Chr11:2189347
GRCh38:
Chr11:2168117
THnot specifiedUncertain significance
(Oct 10, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr11:2189718
GRCh38:
Chr11:2168488
THnot specified, DystoniaBenign
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:2189719
GRCh38:
Chr11:2168489
THSegawa syndrome, autosomal recessiveLikely pathogenic
(Jun 27, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr11:2189802
GRCh38:
Chr11:2168572
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr11:2189810
GRCh38:
Chr11:2168580
THSegawa syndrome, autosomal recessive, not specified, not provided
Uncertain significance
(Jan 31, 2017)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:2189844
GRCh38:
Chr11:2168614
THnot providedPathogenic
(Jun 26, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr11:2189845
GRCh38:
Chr11:2168615
THSegawa syndrome, autosomal recessive, DystoniaConflicting interpretations of pathogenicity
(Jun 23, 2017)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr11:2189846
GRCh38:
Chr11:2168616
THnot specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr11:2189848
GRCh38:
Chr11:2168618
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr11:2189866
GRCh38:
Chr11:2168636
THnot specifiedLikely benigncriteria provided, single submitter
77.
GRCh37:
Chr11:2189904
GRCh38:
Chr11:2168674
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr11:2189930-2189933
GRCh38:
Chr11:2168700-2168703
THnot specifiedLikely benigncriteria provided, single submitter
79.
GRCh37:
Chr11:2190900
GRCh38:
Chr11:2169670
THnot providedLikely pathogenic
(Nov 30, 2016)
no assertion criteria provided
80.
GRCh37:
Chr11:2190904
GRCh38:
Chr11:2169674
THnot providedUncertain significance
(Aug 31, 2016)
no assertion criteria provided
81.
GRCh37:
Chr11:2190909
GRCh38:
Chr11:2169679
THSegawa syndrome, autosomal recessivePathogenic
(Aug 28, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr11:2190925
GRCh38:
Chr11:2169695
THSegawa syndrome, autosomal recessive, not specified, Dystonia
Benign/Likely benign
(Jul 25, 2017)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:2190928
GRCh38:
Chr11:2169698
THDystoniaBenign
(Dec 13, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr11:2190929
GRCh38:
Chr11:2169699
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr11:2190940
GRCh38:
Chr11:2169710
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr11:2190951
GRCh38:
Chr11:2169721
THSegawa syndrome, autosomal recessive, not specifiedBenign
(Apr 14, 2017)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr11:2190982
GRCh38:
Chr11:2169752
THSegawa syndrome, autosomal recessive, not specified, Dystonia
Benign/Likely benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr11:2190999
GRCh38:
Chr11:2169769
THDystoniaUncertain significance
(Dec 8, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr11:2191006
GRCh38:
Chr11:2169776
THSegawa syndrome, autosomal recessive, not specified, Dystonia
Benign/Likely benign
(Jun 10, 2017)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr11:2191024
GRCh38:
Chr11:2169794
THDystoniaLikely benign
(Jun 15, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr11:2191039
GRCh38:
Chr11:2169809
THDystoniaLikely benign
(Mar 30, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr11:2191077
GRCh38:
Chr11:2169847
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr11:2191082
GRCh38:
Chr11:2169852
THDystoniaUncertain significance
(Jun 26, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr11:2191085-2191110
GRCh38:
Chr11:2169855-2169880
THSegawa syndrome, autosomal recessiveLikely pathogenic
(May 16, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr11:2191094
GRCh38:
Chr11:2169864
THnot providedUncertain significance
(Oct 31, 2017)
no assertion criteria provided
96.
GRCh37:
Chr11:2191954
GRCh38:
Chr11:2170724
THDystoniaUncertain significance
(Jul 10, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr11:2192950
GRCh38:
Chr11:2171720
THnot providedUncertain significance
(Feb 28, 2017)
no assertion criteria provided
98.
GRCh37:
Chr11:2192973
GRCh38:
Chr11:2171743
THSegawa syndrome, autosomal recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr11:2192998
GRCh38:
Chr11:2171768
THDystoniaUncertain significance
(Aug 2, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr11:2193001
GRCh38:
Chr11:2171771
THSegawa syndrome, autosomal recessive, not provided, Dystonia
Conflicting interpretations of pathogenicity
(Jul 6, 2017)
criteria provided, conflicting interpretations
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