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Items: 1 to 100 of 260

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
PTENHereditary cancer-predisposing syndromeUncertain significance
(Dec 16, 2013)
criteria provided, single submitter
2.
PTENHereditary cancer-predisposing syndromeUncertain significance
(Dec 31, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr10:89622885
GRCh38:
Chr10:87863128
PTEN, KLLNnot specifiedUncertain significance
(Jul 9, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr10:89622915
GRCh38:
Chr10:87863158
PTEN, KLLNnot specifiedGMAF:0.00060(C)Likely benign
(Jun 1, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr10:89622936
GRCh38:
Chr10:87863179
PTEN, KLLNnot specifiedGMAF:0.00020(A)Uncertain significance
(Oct 13, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr10:89622979
GRCh38:
Chr10:87863222
PTEN, KLLNnot specifiedUncertain significance
(Jul 13, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr10:89622984
GRCh38:
Chr10:87863227
PTEN, KLLNnot specifiedUncertain significance
(Dec 1, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:89622992
GRCh38:
Chr10:87863235
PTEN, KLLNnot specifiedUncertain significance
(Mar 10, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:89622992
GRCh38:
Chr10:87863235
PTEN, KLLNnot specifiedUncertain significance
(Jan 3, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr10:89623016
GRCh38:
Chr10:87863259
PTEN, KLLNnot specifiedUncertain significance
(Jul 13, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr10:89623018
GRCh38:
Chr10:87863261
PTEN, KLLNnot specifiedUncertain significance
(Apr 21, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr10:89623019
GRCh38:
Chr10:87863262
PTEN, KLLNnot specifiedUncertain significance
(Feb 16, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:89623024
GRCh38:
Chr10:87863267
PTEN, KLLNnot specifiedUncertain significance
(Aug 15, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr10:89623031-89623042
GRCh38:
Chr10:87863274-87863285
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 12, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:89623036
GRCh38:
Chr10:87863279
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Sep 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:89623047
GRCh38:
Chr10:87863290
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 12, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:89623056
GRCh38:
Chr10:87863299
PTEN, KLLNCowden syndrome 1, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 10, 2015)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:89623056
GRCh38:
Chr10:87863299
PTEN, KLLNPTEN hamartoma tumor syndrome, Cowden syndrome 1, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 21, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:89623082
GRCh38:
Chr10:87863325
PTEN, KLLNnot specifiedUncertain significance
(Nov 11, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr10:89623084
GRCh38:
Chr10:87863327
PTEN, KLLNnot specifiedGMAF:0.00220(T)Uncertain significance
(Feb 29, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr10:89623084
GRCh38:
Chr10:87863327
PTEN, KLLNPTEN hamartoma tumor syndrome, not specified, Hereditary cancer-predisposing syndrome
GMAF:0.00220(T)Conflicting interpretations of pathogenicity
(Jun 8, 2016)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr10:89623086-89623087
GRCh38:
Chr10:87863329-87863330
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 20, 2015)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr10:89623091-89623092
GRCh38:
Chr10:87863334-87863335
PTEN, KLLNHereditary cancer-predisposing syndromeUncertain significance
(Aug 6, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr10:89623105
GRCh38:
Chr10:87863348
PTEN, KLLNnot specifiedUncertain significance
(Dec 11, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr10:89623130
GRCh38:
Chr10:87863373
PTEN, KLLNnot specifiedUncertain significance
(Aug 20, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr10:89623131
GRCh38:
Chr10:87863374
PTEN, KLLNnot specifiedUncertain significance
(Oct 10, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr10:89623139-89623164
GRCh38:
Chr10:87863382-87863407
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Apr 8, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr10:89623142
GRCh38:
Chr10:87863385
PTEN, KLLNPTEN hamartoma tumor syndrome, not specified, Hereditary cancer-predisposing syndrome
GMAF:0.00560(T)Conflicting interpretations of pathogenicity
(Mar 31, 2016)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr10:89623150
GRCh38:
Chr10:87863393
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 8, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:89623167
GRCh38:
Chr10:87863410
PTEN, KLLNnot specifiedGMAF:0.00380(G)Likely benign
(Jun 30, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr10:89623179
GRCh38:
Chr10:87863422
PTEN, KLLNnot specifiedUncertain significance
(Nov 29, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr10:89623182
GRCh38:
Chr10:87863425
PTEN, KLLNnot specifiedUncertain significance
(Mar 23, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr10:89623185
GRCh38:
Chr10:87863428
PTEN, KLLNnot specifiedUncertain significance
(Sep 19, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr10:89623193-89623197
GRCh38:
Chr10:87863436-87863440
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 6, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:89623193-89623197
GRCh38:
Chr10:87863436-87863440
PTEN, KLLNnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 20, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:89623200
GRCh38:
Chr10:87863443
PTENnot specifiedGMAF:0.00140(A)Benign
(Dec 18, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr10:89623213
GRCh38:
Chr10:87863456
PTENnot specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr10:89623229
GRCh38:
Chr10:87863472
PTENnot specifiedUncertain significance
(Mar 10, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr10:89623229
GRCh38:
Chr10:87863472
PTENnot specifiedUncertain significance
(Feb 26, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr10:89623233
GRCh38:
Chr10:87863476
PTENnot specifiedUncertain significance
(Jan 27, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr10:89623237
GRCh38:
Chr10:87863480
PTENnot specifiedUncertain significance
(Oct 13, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr10:89623240
GRCh38:
Chr10:87863483
PTENnot specifiedUncertain significance
(Oct 12, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr10:89623251
GRCh38:
Chr10:87863494
PTENnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:89623251
GRCh38:
Chr10:87863494
PTENnot specifiedUncertain significance
(Nov 17, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr10:89623270
GRCh38:
Chr10:87863513
PTENnot specifiedUncertain significance
(Jan 2, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr10:89623280
GRCh38:
Chr10:87863523
PTENnot specifiedGMAF:0.00020(T)Uncertain significance
(Sep 3, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr10:89623283
GRCh38:
Chr10:87863526
PTENnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 24, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr10:89623284
GRCh38:
Chr10:87863527
PTENnot specifiedUncertain significance
(Sep 8, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr10:89623303
GRCh38:
Chr10:87863546
PTENnot specifiedUncertain significance
(May 22, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr10:89623306
GRCh38:
Chr10:87863549
PTENnot specifiedUncertain significance
(Jul 7, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr10:89623317
GRCh38:
Chr10:87863560
PTENnot specified, Hereditary cancer-predisposing syndromeGMAF:0.00020(C)Conflicting interpretations of pathogenicity
(Jun 21, 2016)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr10:89623319
GRCh38:
Chr10:87863562
PTENnot specifiedUncertain significance
(Feb 25, 2014)
criteria provided, single submitter
53.
GRCh37:
Chr10:89623322
GRCh38:
Chr10:87863565
PTENnot specifiedUncertain significance
(Nov 11, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr10:89623323-89623344
GRCh38:
Chr10:87863566-87863587
PTENHereditary cancer-predisposing syndromeUncertain significance
(Mar 10, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr10:89623323
GRCh38:
Chr10:87863566
PTENnot specifiedGMAF:0.01100(A)Benign
(Dec 18, 2013)
criteria provided, single submitter
56.
GRCh37:
Chr10:89623334
GRCh38:
Chr10:87863577
PTENnot specifiedUncertain significance
(Nov 9, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr10:89623357
GRCh38:
Chr10:87863600
PTENnot specifiedUncertain significance
(May 19, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr10:89623358
GRCh38:
Chr10:87863601
PTENnot specifiedUncertain significance
(Jun 20, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr10:89623358-89623380
GRCh38:
Chr10:87863601-87863623
PTENHereditary cancer-predisposing syndromeUncertain significance
(Aug 27, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr10:89623358
GRCh38:
Chr10:87863601
PTENnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 18, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:89623364
GRCh38:
Chr10:87863607
PTENnot specifiedUncertain significance
(Feb 5, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr10:89623365
GRCh38:
Chr10:87863608
PTENnot specifiedUncertain significance
(Oct 22, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr10:89623367
GRCh38:
Chr10:87863610
PTENnot specifiedUncertain significance
(Mar 17, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr10:89623370
GRCh38:
Chr10:87863613
PTENnot specifiedUncertain significance
(Apr 20, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr10:89623375
GRCh38:
Chr10:87863618
PTENnot specifiedUncertain significance
(Jan 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr10:89623376
GRCh38:
Chr10:87863619
PTENnot specifiedGMAF:0.00040(T)Uncertain significance
(Jan 29, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr10:89623380
GRCh38:
Chr10:87863623
PTENnot specifiedUncertain significance
(Jun 22, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr10:89623381
GRCh38:
Chr10:87863624
PTENnot specifiedUncertain significance
(Sep 29, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr10:89623383
GRCh38:
Chr10:87863626
PTENnot specifiedUncertain significance
(Sep 15, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr10:89623390
GRCh38:
Chr10:87863633
PTENnot specifiedUncertain significance
(May 26, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr10:89623392
GRCh38:
Chr10:87863635
PTENPTEN hamartoma tumor syndrome, not specified, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Jan 28, 2017)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr10:89623405
GRCh38:
Chr10:87863648
PTENnot specifiedUncertain significance
(Nov 1, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr10:89623405
GRCh38:
Chr10:87863648
PTENnot specifiedUncertain significance
(Jan 27, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr10:89623413
GRCh38:
Chr10:87863656
PTENnot specifiedUncertain significance
(Dec 23, 2015)
criteria provided, single submitter
75.
GRCh37:
Chr10:89623425
GRCh38:
Chr10:87863668
PTENnot specifiedUncertain significance
(Dec 17, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr10:89623428
GRCh38:
Chr10:87863671
PTENPTEN hamartoma tumor syndrome, not specified, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(May 19, 2016)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr10:89623429
GRCh38:
Chr10:87863672
PTENnot specifiedGMAF:0.00040(G)Uncertain significance
(Mar 3, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr10:89623430
GRCh38:
Chr10:87863673
PTENnot specifiedUncertain significance
(Jun 8, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr10:89623432
GRCh38:
Chr10:87863675
PTENnot specifiedUncertain significance
(Aug 22, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr10:89623436
GRCh38:
Chr10:87863679
PTENnot specifiedUncertain significance
(Jan 13, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr10:89623459
GRCh38:
Chr10:87863702
PTENnot specifiedUncertain significance
(Feb 16, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr10:89623462
GRCh38:
Chr10:87863705
PTENPTEN hamartoma tumor syndrome, Cowden syndrome 1, not specified
Conflicting interpretations of pathogenicity
(Jul 7, 2016)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr10:89623463
GRCh38:
Chr10:87863706
PTENnot specifiedUncertain significance
(Mar 1, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr10:89623485
GRCh38:
Chr10:87863728
PTENnot specifiedUncertain significance
(Oct 13, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr10:89623493
GRCh38:
Chr10:87863736
PTENnot specifiedUncertain significance
(Jun 6, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr10:89623493
GRCh38:
Chr10:87863736
PTENHereditary cancer-predisposing syndromeUncertain significance
(Dec 6, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr10:89623497
GRCh38:
Chr10:87863739
PTENnot specifiedUncertain significance
(Apr 25, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr10:89623497
GRCh38:
Chr10:87863740
PTENnot specifiedUncertain significance
(Oct 19, 2015)
criteria provided, single submitter
89.
GRCh37:
Chr10:89623499
GRCh38:
Chr10:87863742
PTENnot specifiedUncertain significance
(Oct 3, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr10:89623513
GRCh38:
Chr10:87863756
PTENnot specifiedUncertain significance
(May 2, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr10:89623526
GRCh38:
Chr10:87863769
PTENnot specifiedUncertain significance
(Dec 1, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr10:89623535
GRCh38:
Chr10:87863778
PTENnot specifiedUncertain significance
(Feb 25, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr10:89623538
GRCh38:
Chr10:87863781
PTENnot specifiedUncertain significance
(Jul 26, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr10:89623541
GRCh38:
Chr10:87863784
PTENnot specifiedUncertain significance
(Oct 3, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr10:89623552
GRCh38:
Chr10:87863795
PTENnot specifiedUncertain significance
(Sep 15, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:89623554
GRCh38:
Chr10:87863797
PTENnot specifiedUncertain significance
(Aug 27, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr10:89623559
GRCh38:
Chr10:87863802
PTENnot specifiedUncertain significance
(Aug 22, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr10:89623561
GRCh38:
Chr10:87863804
PTENnot specifiedGMAF:0.00060(A)Uncertain significance
(Aug 25, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr10:89623564-89623575
GRCh38:
Chr10:87863807-87863818
PTENHereditary cancer-predisposing syndromeBenign
(Mar 25, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr10:89624199
GRCh38:
Chr10:87864442
PTENnot specifiedGO-ESP:0.00002(T)Uncertain significance
(Sep 23, 2016)
criteria provided, single submitter
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