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Items: 88

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:30922505
GRCh38:
Chr8:31064989
WRNWerner syndromeUncertain significance
(Jan 29, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr8:31030567
GRCh38:
Chr8:31173051
WRNWerner syndromeLikely benign
(Mar 4, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr8:31030522
GRCh38:
Chr8:31173006
WRNWerner syndromeLikely benign
(Feb 4, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr8:31015036
GRCh38:
Chr8:31157520
WRNWerner syndromeLikely benign
(Dec 20, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr8:31012276
GRCh38:
Chr8:31154760
WRNWerner syndromeUncertain significance
(Feb 7, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr8:31012233
GRCh38:
Chr8:31154717
WRNWerner syndromeUncertain significance
(Mar 17, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr8:31012190
GRCh38:
Chr8:31154674
WRNWerner syndromeLikely benign
(Mar 10, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr8:30922437
GRCh38:
Chr8:31064921
WRNWerner syndromeUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr8:31004979
GRCh38:
Chr8:31147463
WRNWerner syndromeUncertain significance
(Dec 19, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr8:30921954
GRCh38:
Chr8:31064438
WRNWerner syndromeUncertain significance
(Mar 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr8:31004650
GRCh38:
Chr8:31147134
WRNWerner syndromeUncertain significance
(Dec 28, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr8:31004638
GRCh38:
Chr8:31147122
WRNWerner syndromeLikely benign
(Mar 10, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:31004622
GRCh38:
Chr8:31147106
WRNWerner syndromeUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:31004602
GRCh38:
Chr8:31147086
WRNWerner syndromeLikely benign
(Jan 19, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr8:30921934
GRCh38:
Chr8:31064418
WRNWerner syndromeLikely benign
(Feb 15, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr8:31004566
GRCh38:
Chr8:31147050
WRNWerner syndromeBenign
(Mar 17, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr8:30921921
GRCh38:
Chr8:31064405
WRNWerner syndromeUncertain significance
(Jan 27, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr8:31000167
GRCh38:
Chr8:31142651
WRNWerner syndromeUncertain significance
(Feb 19, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr8:31000145
GRCh38:
Chr8:31142629
WRNWerner syndromeBenign
(Mar 28, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr8:30999267-30999269
GRCh38:
Chr8:31141751-31141753
WRNWerner syndromeUncertain significance
(Feb 6, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr8:30999188
GRCh38:
Chr8:31141672
WRNWerner syndromeLikely benign
(Dec 28, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr8:30999079
GRCh38:
Chr8:31141563
WRNWerner syndromeUncertain significance
(Mar 28, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr8:30998958
GRCh38:
Chr8:31141442
WRNWerner syndromeUncertain significance
(Feb 7, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr8:30989995
GRCh38:
Chr8:31132479
WRNWerner syndromeLikely benign
(Dec 3, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr8:30982426
GRCh38:
Chr8:31124910
WRNWerner syndromeLikely benign
(Feb 5, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr8:30977906
GRCh38:
Chr8:31120390
WRNWerner syndromeUncertain significance
(Mar 5, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr8:30982522
GRCh38:
Chr8:31125006
WRNWerner syndromeUncertain significance
(Jan 7, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr8:30977856-30977857
GRCh38:
Chr8:31120340-31120341
WRNWerner syndromePathogenic
(Mar 28, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr8:30973938
GRCh38:
Chr8:31116422
WRNWerner syndromeLikely benign
(Jan 15, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr8:30969283
GRCh38:
Chr8:31111767
WRNWerner syndromeBenign
(Mar 8, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr8:30921816
GRCh38:
Chr8:31064300
WRNWerner syndromeUncertain significance
(Jan 10, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr8:30969173
GRCh38:
Chr8:31111657
WRNWerner syndromeUncertain significance
(Dec 25, 2015)
criteria provided, single submitter
33.
GRCh37:
Chr8:30969156
GRCh38:
Chr8:31111640
WRNWerner syndromeUncertain significance
(Feb 9, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr8:30958450
GRCh38:
Chr8:31100934
WRNWerner syndromeLikely benign
(Jan 21, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr8:30958412
GRCh38:
Chr8:31100896
WRNWerner syndromeUncertain significance
(Mar 15, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr8:30954338
GRCh38:
Chr8:31096822
WRNWerner syndromeBenign
(Mar 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr8:30954284
GRCh38:
Chr8:31096768
WRNWerner syndromeUncertain significance
(Dec 20, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr8:30948417
GRCh38:
Chr8:31090901
WRNWerner syndromeBenign
(Feb 8, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr8:30948354
GRCh38:
Chr8:31090838
WRNWerner syndromeBenign
(Feb 8, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr8:30948045
GRCh38:
Chr8:31090529
WRNWerner syndromeUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr8:30948032
GRCh38:
Chr8:31090516
WRNWerner syndromeLikely benign
(Feb 25, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr8:30915979
GRCh38:
Chr8:31058463
WRNWerner syndromeBenign
(Feb 25, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr8:30946481
GRCh38:
Chr8:31088965
WRNWerner syndromeUncertain significance
(Dec 19, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr8:30915978
GRCh38:
Chr8:31058462
WRNWerner syndromePathogenic
(Jan 27, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr8:30945390
GRCh38:
Chr8:31087874
WRNWerner syndromeGMAF:0.00380(T)Likely benign
(Mar 8, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr8:30945373
GRCh38:
Chr8:31087857
WRNWerner syndromeUncertain significance
(Feb 10, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr8:30916716
GRCh38:
Chr8:31059200
WRNWerner syndromeBenign
(Dec 1, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr8:30945299
GRCh38:
Chr8:31087783
WRNWerner syndromeUncertain significance
(Dec 16, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr8:30942742
GRCh38:
Chr8:31085226
WRNWerner syndromeUncertain significance
(Jan 19, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr8:30941220
GRCh38:
Chr8:31083704
WRNWerner syndromeLikely benign
(Jan 10, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr8:30938708
GRCh38:
Chr8:31081192
WRNWerner syndromePathogenic
(Feb 29, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr8:30916678
GRCh38:
Chr8:31059162
WRNWerner syndromeUncertain significance
(Mar 18, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr8:30938570
GRCh38:
Chr8:31081054
WRNWerner syndromeUncertain significance
(Jan 22, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr8:30922562-30922563
GRCh38:
Chr8:31065046-31065047
WRNWerner syndromeLikely pathogenic
(Jan 1, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr8:30924605
GRCh38:
Chr8:31067089
WRNWerner syndromePathogenic
(Oct 14, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr8:30977831
GRCh38:
Chr8:31120315
WRNWerner syndrome, not providedUncertain significance
(Mar 3, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr8:30922448
GRCh38:
Chr8:31064932
WRNWerner syndromenot providedno assertion provided
58.
GRCh37:
Chr8:30938692
GRCh38:
Chr8:31081176
WRNWerner syndrome, not specifiedGMAF:0.00040(T)Benign
(Mar 28, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr8:30938783
GRCh38:
Chr8:31081267
WRNWerner syndrome, not specifiedUncertain significance
(Mar 26, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr8:30938513
GRCh38:
Chr8:31080997
WRNWerner syndrome, not specifiedGMAF:0.00300(G)Benign/Likely benign, not provided
(Mar 25, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr8:31030535
GRCh38:
Chr8:31173019
WRNWerner syndrome, not specifiedGMAF:0.00540(T)Benign
(Mar 21, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr8:31024570
GRCh38:
Chr8:31167054
WRNWerner syndrome, not specifiedGMAF:0.00480(A)Benign
(Dec 7, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr8:31014939
GRCh38:
Chr8:31157423
WRNWerner syndrome, not specifiedGMAF:0.00080(A)Uncertain significance
(Mar 28, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr8:31012237
GRCh38:
Chr8:31154721
WRNWerner syndrome, not specified, not provided
GMAF:0.00080(G)Conflicting interpretations of pathogenicity, not provided
(Mar 28, 2016)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr8:30916679
GRCh38:
Chr8:31059163
WRNWerner syndrome, not specifiedGMAF:0.00080(A)Likely benign
(Feb 11, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr8:31004607
GRCh38:
Chr8:31147091
WRNWerner syndrome, not specified, not provided
Uncertain significance
(Mar 8, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr8:30998964
GRCh38:
Chr8:31141448
WRNWerner syndrome, not specifiedUncertain significance
(Jan 28, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr8:30998961
GRCh38:
Chr8:31141445
WRNWerner syndrome, not specifiedGMAF:0.00080(A)Likely benign
(Mar 28, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr8:30999075
GRCh38:
Chr8:31141559
WRNWerner syndrome, not specifiedUncertain significance
(Mar 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr8:30990005
GRCh38:
Chr8:31132489
WRNWerner syndrome, not specifiedGMAF:0.00120(A)Benign/Likely benign, not provided
(Mar 3, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr8:30989992
GRCh38:
Chr8:31132476
WRNWerner syndrome, not specifiedGMAF:0.00280(G)Likely benign
(Dec 1, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr8:30949398
GRCh38:
Chr8:31091882
WRNWerner syndrome, not specifiedGMAF:0.00320(G)Benign
(Feb 12, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr8:30945390
GRCh38:
Chr8:31087874
WRNWerner syndrome, not specifiedGMAF:0.00380(T)Benign/Likely benign, not provided
(Feb 2, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr8:31007874
GRCh38:
Chr8:31150358
WRNWerner syndromePathogenic
(Nov 17, 2011)
no assertion criteria provided
75.
GRCh37:
Chr8:31004878
GRCh38:
Chr8:31147362
WRNWerner syndromePathogenic
(Nov 17, 2011)
no assertion criteria provided
76.
GRCh37:
Chr8:30977810
GRCh38:
Chr8:31120294
WRNWerner syndrome, not specifiedConflicting interpretations of pathogenicity, not provided
(Feb 11, 2016)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr8:30969221
GRCh38:
Chr8:31111705
WRNWerner syndromePathogenic
(Nov 17, 2011)
no assertion criteria provided
78.
GRCh37:
Chr8:30966107
GRCh38:
Chr8:31108591
WRNWerner syndromePathogenic
(Nov 17, 2011)
no assertion criteria provided
79.
GRCh37:
Chr8:30922450
Chr8:30922478
GRCh38:
Chr8:31064934
Chr8:31064962
WRNWerner syndromePathogenic
(Jun 1, 2006)
no assertion criteria provided
80.
GRCh37:
Chr8:30948359
GRCh38:
Chr8:31090843
WRNWerner syndromePathogenic
(Sep 1, 2003)
no assertion criteria provided
81.
WRNWerner syndromePathogenic
(Nov 1, 1997)
no assertion criteria provided
82.
GRCh37:
Chr8:31007970
GRCh38:
Chr8:31150454
WRNWerner syndromePathogenic
(Nov 1, 1997)
no assertion criteria provided
83.
GRCh37:
Chr8:30938648
GRCh38:
Chr8:31081132
WRNWerner syndromeGO-ESP:0.00031(T)Pathogenic
(Dec 12, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr8:31014979
GRCh38:
Chr8:31157463
WRNWerner syndromePathogenic
(Feb 1, 1997)
no assertion criteria provided
85.
GRCh37:
Chr8:30999196
GRCh38:
Chr8:31141680
WRNWerner syndrome, not providedGMAF:0.00020(C)Pathogenic
(Nov 17, 2011)
no assertion criteria provided
86.
GRCh37:
Chr8:31012142-31012145
GRCh38:
Chr8:31154626-31154629
WRNWerner syndromePathogenic
(Dec 1, 1996)
no assertion criteria provided
87.
GRCh37:
Chr8:31004913
GRCh38:
Chr8:31147397
WRNWerner syndromePathogenic
(Apr 12, 1996)
no assertion criteria provided
88.
GRCh37:
Chr8:31014977
GRCh38:
Chr8:31157461
WRNWerner syndromeGMAF:0.00020(T)Pathogenic
(Apr 12, 1996)
no assertion criteria provided
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