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Items: 1 to 100 of 187

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:47249334-47249342
GRCh38:
Chr19:46746077-46746085
STRN4, FKRPnot specifiedLikely benign
(Apr 24, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr19:47249361
GRCh38:
Chr19:46746104
STRN4, FKRPnot specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:47251341
GRCh38:
Chr19:46748084
FKRPnot specifiedLikely benign
(Nov 30, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr19:47251910-47251912
GRCh38:
Chr19:46748653-46748655
FKRPnot specifiedLikely benign
(Mar 15, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr19:47251930
GRCh38:
Chr19:46748673
FKRPnot specifiedBenign
(Dec 19, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr19:47255735-47259271
GRCh38:
Chr19:46752478-46756014
FKRPWalker-Warburg congenital muscular dystrophyPathogenic
(May 4, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:47258653
GRCh38:
Chr19:46755396
FKRPnot specifiedLikely benign
(Oct 18, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr19:47258654
GRCh38:
Chr19:46755397
FKRPnot specifiedLikely benign
(Jan 6, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr19:47258674
GRCh38:
Chr19:46755417
FKRPnot specifiedBenign
(Dec 21, 2013)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:47258708
GRCh38:
Chr19:46755451
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5Pathogenic
(Sep 21, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:47258712
GRCh38:
Chr19:46755455
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(May 22, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr19:47258718
GRCh38:
Chr19:46755461
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Dec 28, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr19:47258720
GRCh38:
Chr19:46755463
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Nov 28, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr19:47258740
GRCh38:
Chr19:46755483
FKRPnot specifiedLikely benign
(Sep 28, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr19:47258744
GRCh38:
Chr19:46755487
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Mar 14, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr19:47258750
GRCh38:
Chr19:46755493
FKRPnot specifiedUncertain significance
(Dec 11, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr19:47258761
GRCh38:
Chr19:46755504
FKRPnot specifiedUncertain significance
(Jul 18, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr19:47258789
GRCh38:
Chr19:46755532
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr19:47258792
GRCh38:
Chr19:46755535
FKRPnot specifiedUncertain significance
(Jan 23, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr19:47258821
GRCh38:
Chr19:46755564
FKRPWalker-Warburg congenital muscular dystrophyLikely benign
(Nov 8, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:47258829
GRCh38:
Chr19:46755572
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Jul 3, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr19:47258842
GRCh38:
Chr19:46755585
FKRPCongenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5, Limb-girdle muscular dystrophy-dystroglycanopathy, type C5, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5,
not specified
Benign/Likely benign
(Apr 28, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr19:47258849
GRCh38:
Chr19:46755592
FKRPWalker-Warburg congenital muscular dystrophyPathogenic
(Jun 14, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr19:47258858
GRCh38:
Chr19:46755601
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:47258865-47258869
GRCh38:
Chr19:46755608-46755612
FKRPWalker-Warburg congenital muscular dystrophyPathogenic
(Mar 28, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr19:47258867
GRCh38:
Chr19:46755610
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5Pathogenic
(Jan 1, 2004)
no assertion criteria provided
27.
GRCh37:
Chr19:47258869-47258872
GRCh38:
Chr19:46755612-46755615
FKRPCongenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5Pathogenic
(Aug 25, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr19:47258876
GRCh38:
Chr19:46755619
FKRPnot specifiedUncertain significance
(Sep 15, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr19:47258890
GRCh38:
Chr19:46755633
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Aug 15, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr19:47258899
GRCh38:
Chr19:46755642
FKRPCongenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5, Limb-girdle muscular dystrophy-dystroglycanopathy, type C5, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5,
not specified, Walker-Warburg congenital muscular dystrophy
Benign
(Aug 4, 2017)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr19:47258939
GRCh38:
Chr19:46755682
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Jul 9, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr19:47258942
GRCh38:
Chr19:46755685
FKRPCongenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5, Limb-girdle muscular dystrophy-dystroglycanopathy, type C5, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5,
not specified, not provided, Walker-Warburg congenital muscular dystrophy
Conflicting interpretations of pathogenicity
(Jul 27, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr19:47258956
GRCh38:
Chr19:46755699
FKRPnot specified, Walker-Warburg congenital muscular dystrophyBenign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr19:47258971
GRCh38:
Chr19:46755714
FKRPnot providedPathogenic
(Jun 2, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr19:47259002
GRCh38:
Chr19:46755745
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Jun 12, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr19:47259020
GRCh38:
Chr19:46755763
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5Pathogenic
(Nov 18, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr19:47259026
GRCh38:
Chr19:46755769
FKRPnot specifiedUncertain significance
(Aug 8, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr19:47259035
GRCh38:
Chr19:46755778
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Aug 30, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr19:47259048
GRCh38:
Chr19:46755791
FKRPnot specified, Walker-Warburg congenital muscular dystrophyConflicting interpretations of pathogenicity
(Aug 2, 2017)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr19:47259058
GRCh38:
Chr19:46755801
FKRPWalker-Warburg congenital muscular dystrophyLikely benign
(May 17, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr19:47259071
GRCh38:
Chr19:46755814
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Aug 11, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr19:47259081
GRCh38:
Chr19:46755824
FKRPnot specifiedUncertain significance
(Sep 10, 2015)
criteria provided, single submitter
43.
GRCh37:
Chr19:47259086
GRCh38:
Chr19:46755829
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Sep 23, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr19:47259092
GRCh38:
Chr19:46755835
FKRPnot specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr19:47259094-47259097
GRCh38:
Chr19:46755837-46755840
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5Pathogenic
(Dec 1, 2001)
no assertion criteria provided
46.
GRCh37:
Chr19:47259102
GRCh38:
Chr19:46755845
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Jul 15, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr19:47259104
GRCh38:
Chr19:46755847
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(May 7, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr19:47259106
GRCh38:
Chr19:46755849
FKRPnot specifiedLikely benign
(Jul 31, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr19:47259107
GRCh38:
Chr19:46755850
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5Pathogenic
(Dec 1, 2003)
no assertion criteria provided
50.
GRCh37:
Chr19:47259108
GRCh38:
Chr19:46755851
FKRPnot specifiedUncertain significance
(Sep 4, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr19:47259109-47259110
GRCh38:
Chr19:46755852-46755853
FKRPCongenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5Likely pathogenic
(Aug 17, 2016)
no assertion criteria provided
52.
GRCh37:
Chr19:47259111
GRCh38:
Chr19:46755854
FKRPnot specifiedUncertain significance
(Aug 28, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr19:47259133
GRCh38:
Chr19:46755876
FKRPnot specifiedUncertain significance
(Jan 9, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr19:47259134
GRCh38:
Chr19:46755877
FKRPnot specified, not provided, Walker-Warburg congenital muscular dystrophy
Conflicting interpretations of pathogenicity
(Aug 4, 2017)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr19:47259153
GRCh38:
Chr19:46755896
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(May 17, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr19:47259163
GRCh38:
Chr19:46755906
FKRPWalker-Warburg congenital muscular dystrophyLikely benign
(Mar 16, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr19:47259163
GRCh38:
Chr19:46755906
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr19:47259173
GRCh38:
Chr19:46755916
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Jul 11, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr19:47259181
GRCh38:
Chr19:46755924
FKRPWalker-Warburg congenital muscular dystrophyLikely benign
(Apr 10, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr19:47259190
GRCh38:
Chr19:46755933
FKRPnot specifiedUncertain significance
(May 21, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr19:47259193
GRCh38:
Chr19:46755936
FKRPnot specifiedLikely benigncriteria provided, single submitter
62.
GRCh37:
Chr19:47259218
GRCh38:
Chr19:46755961
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr19:47259223
GRCh38:
Chr19:46755966
FKRPWalker-Warburg congenital muscular dystrophyLikely benign
(Mar 17, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr19:47259227
GRCh38:
Chr19:46755970
FKRPnot specified, Walker-Warburg congenital muscular dystrophyBenign/Likely benign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr19:47259238
GRCh38:
Chr19:46755981
FKRPnot specified, Walker-Warburg congenital muscular dystrophyConflicting interpretations of pathogenicity
(Jul 9, 2016)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr19:47259251
GRCh38:
Chr19:46755994
FKRPnot specifiedUncertain significance
(Jan 4, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr19:47259252
GRCh38:
Chr19:46755995
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5Pathogenic
(Sep 4, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr19:47259262
GRCh38:
Chr19:46756005
FKRPnot specifiedLikely benign
(Aug 22, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr19:47259264
GRCh38:
Chr19:46756007
FKRPnot specifiedUncertain significance
(Dec 17, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr19:47259270
GRCh38:
Chr19:46756013
FKRPnot specifiedUncertain significance
(Apr 12, 2017)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:47259274
GRCh38:
Chr19:46756017
FKRPnot specified, Walker-Warburg congenital muscular dystrophyConflicting interpretations of pathogenicity
(Jul 20, 2017)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr19:47259280
GRCh38:
Chr19:46756023
FKRPnot specifiedLikely benign
(Aug 1, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr19:47259288
GRCh38:
Chr19:46756031
FKRPnot specifiedUncertain significance
(Feb 14, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr19:47259289
GRCh38:
Chr19:46756032
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Feb 25, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr19:47259292
GRCh38:
Chr19:46756035
FKRPCongenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5, Limb-girdle muscular dystrophy-dystroglycanopathy, type C5, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5,
not specified, Walker-Warburg congenital muscular dystrophy
Benign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr19:47259293
GRCh38:
Chr19:46756036
FKRPnot specifiedUncertain significance
(Oct 6, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr19:47259293
GRCh38:
Chr19:46756036
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr19:47259313
GRCh38:
Chr19:46756056
FKRPnot specified, Walker-Warburg congenital muscular dystrophyConflicting interpretations of pathogenicity
(May 4, 2017)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr19:47259317
GRCh38:
Chr19:46756060
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Mar 3, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr19:47259320
GRCh38:
Chr19:46756063
FKRPnot specifiedUncertain significance
(Mar 17, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr19:47259320
GRCh38:
Chr19:46756063
FKRPnot specifiedUncertain significance
(Nov 24, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr19:47259328
GRCh38:
Chr19:46756071
FKRPnot specifiedLikely benign
(Apr 20, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr19:47259335
GRCh38:
Chr19:46756078
FKRPnot specifiedUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr19:47259339
GRCh38:
Chr19:46756082
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Apr 25, 2017)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr19:47259343
GRCh38:
Chr19:46756086
FKRPnot specified, Walker-Warburg congenital muscular dystrophyBenign/Likely benign
(Jun 14, 2017)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr19:47259354
GRCh38:
Chr19:46756097
FKRPnot specifiedUncertain significance
(Feb 12, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr19:47259358
GRCh38:
Chr19:46756101
FKRPnot specifiedLikely benign
(May 12, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr19:47259362
GRCh38:
Chr19:46756105
FKRPWalker-Warburg congenital muscular dystrophyUncertain significance
(Mar 21, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr19:47259370
GRCh38:
Chr19:46756113
FKRPCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5Pathogenic
(Mar 25, 2003)
no assertion criteria provided
90.
GRCh37:
Chr19:47259382
GRCh38:
Chr19:46756125
FKRPnot providedPathogenic
(Apr 20, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr19:47259385
GRCh38:
Chr19:46756128
FKRPWalker-Warburg congenital muscular dystrophyLikely benign
(Jul 9, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr19:47259386
GRCh38:
Chr19:46756129
FKRPFukuyama congenital muscular dystrophyPathogenicno assertion criteria provided
93.
GRCh37:
Chr19:47259389
GRCh38:
Chr19:46756132
FKRPnot specifiedUncertain significance
(Aug 24, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr19:47259403
GRCh38:
Chr19:46756146
FKRPnot specifiedUncertain significance
(Jul 27, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr19:47259406
GRCh38:
Chr19:46756149
FKRPnot specifiedUncertain significance
(Mar 9, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr19:47259415
GRCh38:
Chr19:46756158
FKRPnot specifiedLikely benigncriteria provided, single submitter
97.
GRCh37:
Chr19:47259436
GRCh38:
Chr19:46756179
FKRPnot specifiedUncertain significance
(Oct 17, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr19:47259438
GRCh38:
Chr19:46756181
FKRPnot specifiedUncertain significance
(Nov 21, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr19:47259438
GRCh38:
Chr19:46756181
FKRPnot specified, Walker-Warburg congenital muscular dystrophyUncertain significance
(Oct 26, 2017)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr19:47259445-47259456
GRCh38:
Chr19:46756188-46756199
FKRPLimb-girdle muscular dystrophy-dystroglycanopathy, type C5Likely pathogenic
(Sep 15, 2016)
criteria provided, single submitter
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