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Items: 1 to 100 of 135

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:112856871
GRCh38:
Chr12:112419067
PTPN11not specifiedBenign
(Aug 27, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr12:112856920
GRCh38:
Chr12:112419116
PTPN11Noonan syndrome 1, Noonan syndrome, not provided
Pathogenic
(Feb 10, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr12:112884118
GRCh38:
Chr12:112446314
PTPN11not specifiedUncertain significance
(Mar 12, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr12:112884121
GRCh38:
Chr12:112446317
PTPN11RasopathyUncertain significancecriteria provided, single submitter
5.
GRCh37:
Chr12:112884189
GRCh38:
Chr12:112446385
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:112884197
GRCh38:
Chr12:112446393
PTPN11RasopathyBenigncriteria provided, single submitter
7.
GRCh37:
Chr12:112888139
GRCh38:
Chr12:112450335
PTPN11Noonan syndrome, not providedLikely pathogenic
(Nov 18, 2014)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr12:112888150
GRCh38:
Chr12:112450346
PTPN11not specifiedUncertain significance
(Sep 25, 2013)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:112888156
GRCh38:
Chr12:112450352
PTPN11not providedPathogenic
(Jul 29, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr12:112888156
GRCh38:
Chr12:112450352
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Feb 12, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:112888156
GRCh38:
Chr12:112450352
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Oct 23, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:112888158
GRCh38:
Chr12:112450354
PTPN11Noonan syndrome 1, Noonan syndrome, Rasopathy
Pathogenic/Likely pathogenic
(Jun 30, 2015)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:112888158
GRCh38:
Chr12:112450354
PTPN11Noonan syndrome, not providedPathogenic
(Jan 15, 2015)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:112888162
GRCh38:
Chr12:112450358
PTPN11not providedPathogenic
(Apr 30, 2015)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr12:112888162
GRCh38:
Chr12:112450358
PTPN11Noonan syndrome, not providedPathogenic/Likely pathogenic
(Jan 15, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:112888163
GRCh38:
Chr12:112450359
PTPN11not providedPathogenic
(Sep 1, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr12:112888163
GRCh38:
Chr12:112450359
PTPN11Noonan syndrome, RasopathyPathogenic
(Jul 9, 2015)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr12:112888163-112888166
GRCh38:
Chr12:112450359-112450362
PTPN11RasopathyPathogenic
(Jan 1, 2006)
criteria provided, single submitter
19.
GRCh37:
Chr12:112888165
GRCh38:
Chr12:112450361
PTPN11not provided, RasopathyPathogenic
(Nov 14, 2015)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:112888165
GRCh38:
Chr12:112450361
PTPN11not providedPathogenic
(Jun 5, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr12:112888166
GRCh38:
Chr12:112450362
PTPN11RasopathyPathogeniccriteria provided, single submitter
22.
GRCh37:
Chr12:112888166
GRCh38:
Chr12:112450362
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Dec 1, 2015)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr12:112888168
GRCh38:
Chr12:112450364
PTPN11RasopathyPathogeniccriteria provided, single submitter
24.
GRCh37:
Chr12:112888168
GRCh38:
Chr12:112450364
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Oct 5, 2015)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr12:112888172
GRCh38:
Chr12:112450368
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Mar 3, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr12:112888189
GRCh38:
Chr12:112450385
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Nov 10, 2014)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:112888195
GRCh38:
Chr12:112450391
PTPN11not providedPathogenic
(Jul 17, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr12:112888195
GRCh38:
Chr12:112450391
PTPN11Noonan syndrome, not providedPathogenic/Likely pathogenic
(Apr 5, 2013)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:112888198
GRCh38:
Chr12:112450394
PTPN11Noonan syndrome, not providedPathogenic/Likely pathogenic
(Feb 4, 2013)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:112888198
GRCh38:
Chr12:112450394
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Oct 13, 2014)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:112888199
GRCh38:
Chr12:112450395
PTPN11Noonan syndrome 1, Noonan syndrome, not provided
Pathogenic
(Jul 23, 2015)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:112888201
GRCh38:
Chr12:112450397
PTPN11not providedPathogenic
(Feb 7, 2013)
criteria provided, single submitter
33.
GRCh37:
Chr12:112888202
GRCh38:
Chr12:112450398
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Mar 15, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:112888210
GRCh38:
Chr12:112450406
PTPN11not providedPathogenic
(Aug 4, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr12:112888210
GRCh38:
Chr12:112450406
PTPN11Juvenile myelomonocytic leukemia, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(May 10, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr12:112888211
GRCh38:
Chr12:112450407
PTPN11Juvenile myelomonocytic leukemia, not providedPathogenic
(Jun 7, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr12:112888211
GRCh38:
Chr12:112450407
PTPN11Juvenile myelomonocytic leukemia, not providedPathogenic
(Oct 18, 2015)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr12:112888212
GRCh38:
Chr12:112450408
PTPN11Noonan syndrome, RasopathyPathogenic
(Jan 14, 2013)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:112888212
GRCh38:
Chr12:112450408
PTPN11Noonan syndrome, RasopathyPathogenic
(Jul 6, 2015)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:112888220
GRCh38:
Chr12:112450416
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Dec 7, 2015)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:112888228
GRCh38:
Chr12:112450424
PTPN11not specified, not providedUncertain significance
(Apr 16, 2015)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:112888239
GRCh38:
Chr12:112450435
PTPN11Noonan syndrome, not specified, Rasopathy
GO-ESP:0.02814(T)
GMAF:0.02440(T)
Benign
(Jan 15, 2015)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:112888273
GRCh38:
Chr12:112450469
PTPN11not specifiedUncertain significance
(Dec 4, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr12:112888301
GRCh38:
Chr12:112450497
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Aug 18, 2015)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr12:112888312
GRCh38:
Chr12:112450508
PTPN11Noonan syndrome, RasopathyPathogenic
(Nov 21, 2014)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:112888313
GRCh38:
Chr12:112450509
PTPN11not providedPathogenic
(Apr 29, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr12:112888333
GRCh38:
Chr12:112450529
PTPN11not specified, RasopathyGO-ESP:0.00308(G)
GMAF:0.00200(G)
Benign
(Jan 15, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr12:112890996
GRCh38:
Chr12:112453192
PTPN11not specified, RasopathyGO-ESP:0.00015(C)
GMAF:0.00080(C)
Conflicting interpretations of pathogenicity
(May 6, 2015)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr12:112891078
GRCh38:
Chr12:112453274
PTPN11Metachondromatosis, RasopathyPathogenic
(Jun 17, 2010)
criteria provided, single submitter
50.
GRCh37:
Chr12:112891083
GRCh38:
Chr12:112453279
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Nov 25, 2015)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:112891083
GRCh38:
Chr12:112453279
PTPN11not provided, RasopathyPathogenic
(Jan 16, 2015)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:112891121
GRCh38:
Chr12:112453317
PTPN11not specified, not providedLikely pathogenic
(Nov 16, 2012)
criteria provided, single submitter
53.
GRCh37:
Chr12:112891152
GRCh38:
Chr12:112453348
PTPN11RasopathyGMAF:0.00020(T)Benigncriteria provided, single submitter
54.
GRCh37:
Chr12:112891153
GRCh38:
Chr12:112453349
PTPN11RasopathyUncertain significance
(Sep 4, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr12:112891203
GRCh38:
Chr12:112453399
PTPN11Noonan syndrome, not specified, Rasopathy
GO-ESP:0.00923(C)
GMAF:0.00600(C)
Benign/Likely benign
(Jul 31, 2015)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr12:112892360
GRCh38:
Chr12:112454556
PTPN11Noonan syndrome, not specified, Rasopathy
GMAF:0.00060(A)Benign/Likely benign
(Feb 6, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:112893772
GRCh38:
Chr12:112455968
PTPN11not providedPathogenic
(Jul 8, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr12:112893812
GRCh38:
Chr12:112456008
PTPN11not specifiedUncertain significance
(Oct 10, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr12:112910758
GRCh38:
Chr12:112472954
PTPN11not provided, RasopathyPathogenic/Likely pathogenic
(Oct 28, 2015)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:112910759-112910761
GRCh38:
Chr12:112472955-112472957
PTPN11RasopathyPathogenic
(Feb 12, 2013)
criteria provided, single submitter
61.
GRCh37:
Chr12:112910765
GRCh38:
Chr12:112472961
PTPN11Noonan syndrome, not providedPathogenic/Likely pathogenic
(Sep 29, 2015)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:112910772
GRCh38:
Chr12:112472968
PTPN11Noonan syndrome, not providedPathogenic/Likely pathogenic
(Jun 26, 2015)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:112910776
GRCh38:
Chr12:112472972
PTPN11Noonan syndrome 1, RasopathyPathogeniccriteria provided, single submitter
64.
GRCh37:
Chr12:112910785
GRCh38:
Chr12:112472981
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
GO-ESP:0.00015(A)Conflicting interpretations of pathogenicity
(Jun 26, 2015)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr12:112910793
GRCh38:
Chr12:112472989
PTPN11Noonan syndrome, RasopathyPathogenic/Likely pathogenic
(Jun 26, 2015)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:112910793
GRCh38:
Chr12:112472989
PTPN11Noonan syndrome, not providedPathogenic/Likely pathogenic
(Jun 23, 2015)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:112910815
GRCh38:
Chr12:112473011
PTPN11RasopathyUncertain significancecriteria provided, single submitter
68.
GRCh37:
Chr12:112910827
GRCh38:
Chr12:112473023
PTPN11LEOPARD syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Mar 17, 2016)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:112910835
GRCh38:
Chr12:112473031
PTPN11Noonan syndrome 1, not provided, Rasopathy
Pathogenic
(Jul 1, 2015)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:112910837
GRCh38:
Chr12:112473033
PTPN11Noonan syndrome, RasopathyPathogenic/Likely pathogenic
(Jun 26, 2015)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:112910844
GRCh38:
Chr12:112473040
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Feb 23, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:112910844
GRCh38:
Chr12:112473040
PTPN11RasopathyPathogeniccriteria provided, single submitter
73.
GRCh37:
Chr12:112915455
GRCh38:
Chr12:112477651
PTPN11not providedPathogenic
(Mar 10, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr12:112915455
GRCh38:
Chr12:112477651
PTPN11Noonan syndrome, not provided, Rasopathy
Pathogenic
(Jun 13, 2015)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr12:112915455
GRCh38:
Chr12:112477651
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Early T cell progenitor acute lymphoblastic leukemia
Pathogenic
(Jul 22, 2015)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr12:112915456
GRCh38:
Chr12:112477652
PTPN11Noonan syndrome, not providedPathogenic
(Nov 19, 2015)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr12:112915480
GRCh38:
Chr12:112477676
PTPN11RasopathyGMAF:0.00020(G)Benigncriteria provided, single submitter
78.
GRCh37:
Chr12:112915494
GRCh38:
Chr12:112477690
PTPN11not specified, Cardiofaciocutaneous syndromeUncertain significance
(Jan 23, 2015)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:112915514
GRCh38:
Chr12:112477710
PTPN11not specifiedUncertain significance
(Oct 29, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr12:112915523
GRCh38:
Chr12:112477719
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
GO-ESP:0.00008(G)Pathogenic
(Nov 10, 2015)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr12:112915524
GRCh38:
Chr12:112477720
PTPN11Noonan syndrome, RasopathyPathogenic
(Jun 16, 2014)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:112915524
GRCh38:
Chr12:112477720
PTPN11Noonan syndrome 1, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Dec 3, 2015)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:112915526
GRCh38:
Chr12:112477722
PTPN11not specifiedGO-ESP:0.00023(G)Conflicting interpretations of pathogenicity
(Apr 7, 2015)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr12:112915545
GRCh38:
Chr12:112477741
PTPN11RasopathyBenigncriteria provided, single submitter
85.
GRCh37:
Chr12:112915649
GRCh38:
Chr12:112477845
PTPN11not specifiedBenign
(Jul 9, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr12:112915717
GRCh38:
Chr12:112477913
PTPN11not specified, RasopathyBenign/Likely benign
(Jan 29, 2016)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr12:112915723
GRCh38:
Chr12:112477919
PTPN11RasopathyBenign/Likely benign
(Dec 6, 2015)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:112915724
GRCh38:
Chr12:112477920
PTPN11not specifiedUncertain significance
(Mar 12, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr12:112915755
GRCh38:
Chr12:112477951
PTPN11not specifiedGMAF:0.00060(A)Uncertain significance
(Oct 6, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr12:112915775
GRCh38:
Chr12:112477971
PTPN11RasopathyGO-ESP:0.00008(G)Uncertain significancecriteria provided, single submitter
91.
GRCh37:
Chr12:112915779
GRCh38:
Chr12:112477975
PTPN11RasopathyGMAF:0.00040(A)Uncertain significancecriteria provided, single submitter
92.
GRCh37:
Chr12:112919869
GRCh38:
Chr12:112482065
PTPN11Noonan syndrome, not specified, Rasopathy
GO-ESP:0.04606(A)
GMAF:0.04290(A)
Benign
(Jan 15, 2015)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr12:112919905
GRCh38:
Chr12:112482101
PTPN11RasopathyUncertain significance
(Sep 18, 2009)
criteria provided, single submitter
94.
GRCh37:
Chr12:112919909
GRCh38:
Chr12:112482105
PTPN11not specified, RasopathyGO-ESP:0.00008(G)
GMAF:0.00020(G)
Uncertain significance
(Nov 5, 2010)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:112924336
GRCh38:
Chr12:112486532
PTPN11not providedLikely pathogenic
(May 3, 2012)
criteria provided, single submitter
96.
GRCh37:
Chr12:112924453
GRCh38:
Chr12:112486649
PTPN11not specifiedGMAF:0.00160(T)Benign
(Jun 17, 2013)
criteria provided, single submitter
97.
GRCh37:
Chr12:112926248
GRCh38:
Chr12:112488444
PTPN11Noonan syndrome with multiple lentigines, not providedPathogenic
(Feb 8, 2014)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr12:112926248
GRCh38:
Chr12:112488444
PTPN11Noonan syndrome with multiple lentigines, LEOPARD syndrome 1, not provided
Pathogenic
(Feb 26, 2015)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:112926258
GRCh38:
Chr12:112488454
PTPN11LEOPARD syndrome 1, not provided, Rasopathy
Pathogenic
(Feb 25, 2015)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:112926269
GRCh38:
Chr12:112488465
PTPN11not provided, RasopathyPathogenic
(Dec 9, 2015)
criteria provided, multiple submitters, no conflicts
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