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Items: 67

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:25362763-25362765
GRCh38:
Chr12:25209829-25209831
KRASnot specified, RasopathyGO-ESP:0.00052(-)Conflicting interpretations of pathogenicity, not provided
(Sep 5, 2014)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr12:25362777
GRCh38:
Chr12:25209843
KRASNoonan syndrome, not specified, Cardio-facio-cutaneous syndrome
GO-ESP:0.20077(G)
GMAF:0.17550(G)
GO-ESP:0.19690(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr12:25362805
GRCh38:
Chr12:25209871
KRASnot specifiedGO-ESP:0.00008(T)
GO-ESP:0.00003(T)
Uncertain significance
(Sep 16, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr12:25362826
GRCh38:
Chr12:25209892
KRASnot specifiedUncertain significance
(Feb 25, 2015)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr12:25362830
GRCh38:
Chr12:25209896
KRASRasopathyPathogenic
(Nov 9, 2006)
no assertion criteria provided
6.
GRCh37:
Chr12:25362830
GRCh38:
Chr12:25209896
KRASNoonan syndrome, not providedPathogenic/Likely pathogenic
(Jun 2, 2014)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:25362838
GRCh38:
Chr12:25209904
KRASNoonan syndrome, not providedPathogenic/Likely pathogenic
(May 8, 2012)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr12:25362838
GRCh38:
Chr12:25209904
KRASNoonan syndrome 3, not provided, Rasopathy,
Cardiofaciocutaneous syndrome 2
Pathogenic
(Jul 19, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:25362842
GRCh38:
Chr12:25209908
KRASNoonan syndromeLikely pathogenic
(May 3, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr12:25362854
GRCh38:
Chr12:25209920
KRASNoonan syndrome, not specified, Cardio-facio-cutaneous syndrome
GO-ESP:0.08748(T)
GMAF:0.08370(T)
GO-ESP:0.02809(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:25362855
GRCh38:
Chr12:25209921
KRASnot specifiedLikely benign
(Feb 19, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:25362859
GRCh38:
Chr12:25209925
KRASnot specifiedGO-ESP:0.00003(G)Benign/Likely benign
(Apr 23, 2014)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:25368380
GRCh38:
Chr12:25215446
KRASnot specifiedGO-ESP:0.00015(G)
GO-ESP:0.00025(G)
Uncertain significance
(Jun 14, 2012)
criteria provided, single submitter
14.
GRCh37:
Chr12:25368405
GRCh38:
Chr12:25215471
KRASnot specifiedGO-ESP:0.00008(T)
GO-ESP:0.00006(T)
Conflicting interpretations of pathogenicity
(Sep 21, 2015)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr12:25368410
GRCh38:
Chr12:25215476
KRASnot specifiedGO-ESP:0.00008(T)
GMAF:0.00020(T)
GO-ESP:0.00036(T)
Likely benign
(Dec 3, 2010)
criteria provided, single submitter
16.
GRCh37:
Chr12:25368449
GRCh38:
Chr12:25215515
KRASnot specifiedGO-ESP:0.00008(T)Conflicting interpretations of pathogenicity
(Jan 24, 2014)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr12:25368462
GRCh38:
Chr12:25215528
KRASnot specifiedGO-ESP:0.00146(C)
GMAF:0.00240(C)
GO-ESP:0.00046(C)
Benign
(Jul 31, 2012)
criteria provided, single submitter
18.
GRCh37:
Chr12:25368462
GRCh38:
Chr12:25215528
KRASnot specified, RasopathyGO-ESP:0.99854(T)
GMAF:0.00240(C)
Benign
(Jan 17, 2014)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr12:25368497
GRCh38:
Chr12:25215563
KRASnot specifiedGO-ESP:0.00002(A)Likely benign
(Jan 13, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr12:25378537
GRCh38:
Chr12:25225603
KRASnot specifiedGO-ESP:0.00001(C)Likely benign
(Jun 26, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr12:25380168
GRCh38:
Chr12:25227234
KRASNon-small cell lung cancerLikely pathogenic
(Aug 28, 2014)
no assertion criteria provided
22.
GRCh37:
Chr12:25380194
GRCh38:
Chr12:25227260
KRASNoonan syndrome, not specified, Cardio-facio-cutaneous syndrome
GO-ESP:0.00017(C)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr12:25380197
GRCh38:
Chr12:25227263
KRASnot specifiedUncertain significance
(Jul 22, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr12:25380230
GRCh38:
Chr12:25227296
KRASnot specifiedUncertain significance
(Oct 28, 2006)
criteria provided, single submitter
25.
GRCh37:
Chr12:25380244
GRCh38:
Chr12:25227310
KRASNoonan syndromePathogenic
(Nov 12, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr12:25380247
GRCh38:
Chr12:25227313
KRASCardiofaciocutaneous syndrome 1Likely pathogenic
(Mar 25, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:25380260
GRCh38:
Chr12:25227326
KRASNoonan syndrome, not specified, Cardio-facio-cutaneous syndrome
GO-ESP:0.00008(C)
GMAF:0.00020(C)
GO-ESP:0.00011(C)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr12:25380275
GRCh38:
Chr12:25227341
KRASNon-small cell lung cancerPathogenic
(Aug 28, 2014)
no assertion criteria provided
29.
GRCh37:
Chr12:25380275
GRCh38:
Chr12:25227341
KRASNon-small cell lung cancerPathogenic
(Dec 7, 2007)
no assertion criteria provided
30.
GRCh37:
Chr12:25380276
GRCh38:
Chr12:25227342
KRASNon-small cell lung cancer, Medullary thyroid carcinomaPathogenic/Likely pathogenic
(Sep 1, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr12:25380276
GRCh38:
Chr12:25227342
KRASNoonan syndromePathogenic
(Nov 4, 2009)
criteria provided, single submitter
32.
GRCh37:
Chr12:25380277
GRCh38:
Chr12:25227343
KRASNon-small cell lung cancerPathogenic
(Aug 28, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr12:25380278
GRCh38:
Chr12:25227344
KRASnot specifiedUncertain significance
(Dec 3, 2008)
no assertion criteria provided
34.
GRCh37:
Chr12:25380279
GRCh38:
Chr12:25227345
KRASNon-small cell lung cancer, not provided, Rasopathy
Pathogenic/Likely pathogenic
(May 13, 2014)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr12:25380280
GRCh38:
Chr12:25227346
KRASnot provided, Rasopathy, Cardiofaciocutaneous syndrome 2
Pathogenic
(Apr 20, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:25380285
GRCh38:
Chr12:25227351
KRASNoonan syndrome 3, Noonan syndrome, not provided
Pathogenic
(May 18, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:25380355
GRCh38:
Chr12:25227421
KRASnot specifiedGO-ESP:0.00001(A)Uncertain significance
(Jan 12, 2007)
no assertion criteria provided
38.
GRCh37:
Chr12:25398211
GRCh38:
Chr12:25245277
KRASnot provided, RasopathyLikely pathogenic
(Jul 27, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:25398218
GRCh38:
Chr12:25245284
KRASNoonan syndrome, not provided, Rasopathy
Pathogenic
(Mar 9, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:25398218
GRCh38:
Chr12:25245284
KRASnot provided, Rasopathy, Cardiofaciocutaneous syndrome 2
Pathogenic/Likely pathogenic
(Sep 22, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:25398254
GRCh38:
Chr12:25245320
KRASNoonan syndrome, not provided, Rasopathy
Pathogenic/Likely pathogenic
(Nov 23, 2015)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:25398279
GRCh38:
Chr12:25245345
KRASEndometrial carcinoma, Noonan syndrome 3, not provided,
Rasopathy
GO-ESP:0.00001(T)Pathogenic
(Jun 8, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:25398280
GRCh38:
Chr12:25245346
KRASNon-small cell lung cancerLikely pathogenic
(Sep 30, 2013)
criteria provided, single submitter
44.
GRCh37:
Chr12:25398280
GRCh38:
Chr12:25245346
KRASNon-small cell lung cancerGO-ESP:0.00001(A)Likely pathogenic
(Oct 12, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr12:25398281
GRCh38:
Chr12:25245347
KRASNon-small cell lung cancerPathogenic
(Oct 13, 2011)
criteria provided, single submitter
46.
GRCh37:
Chr12:25398281
GRCh38:
Chr12:25245347
KRASJuvenile myelomonocytic leukemia, Non-small cell lung cancer, Breast cancer, somatic,
RAS-associated autoimmune leukoproliferative disorder, Breast adenocarcinoma
Pathogenic
(Jul 1, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr12:25398282
GRCh38:
Chr12:25245348
KRASNon-small cell lung cancer, RAS-associated autoimmune leukoproliferative disorderPathogenic
(Sep 17, 2012)
criteria provided, single submitter
48.
GRCh37:
Chr12:25398282
GRCh38:
Chr12:25245348
KRASNon-small cell lung cancer, Pilocytic astrocytoma, somatic, Pilocytic astrocytoma
Pathogenic
(Apr 15, 2011)
criteria provided, single submitter
49.
GRCh37:
Chr12:25398284
GRCh38:
Chr12:25245350
KRASNon-small cell lung cancerPathogenic
(Dec 7, 2007)
no assertion criteria provided
50.
GRCh37:
Chr12:25398284
GRCh38:
Chr12:25245350
KRASJuvenile myelomonocytic leukemia, Carcinoma of pancreas, Non-small cell lung cancer,
Nevus sebaceous, NEVUS SEBACEOUS, SOMATIC, not provided
Pathogenic
(Nov 21, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr12:25398284
GRCh38:
Chr12:25245350
KRASEpidermal nevus syndrome, Juvenile myelomonocytic leukemia, Epidermal nevus,
Neoplasm of ovary, Carcinoma of pancreas, Non-small cell lung cancer,
RAS-associated autoimmune leukoproliferative disorder, Neoplasm of stomach, Nevus sebaceous,
NEVUS SEBACEOUS, SOMATIC, not provided ...see more
GO-ESP:0.00002(T)Pathogenic
(Aug 30, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr12:25398285
GRCh38:
Chr12:25245351
KRASJuvenile myelomonocytic leukemia, Neoplasm of ovary, Non-small cell lung cancer,
Neoplasm of stomach
Pathogenic
(Sep 2, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr12:25398285
GRCh38:
Chr12:25245351
KRASMalignant tumor of urinary bladder, Non-small cell lung cancer, Squamous cell carcinoma of lung
Pathogenic
(Aug 28, 2014)
no assertion criteria provided
54.
GRCh37:
Chr12:25398285
GRCh38:
Chr12:25245351
KRASEndometrial carcinoma, Lung cancer, Non-small cell lung cancer
GO-ESP:0.00002(A)Pathogenic
(Dec 7, 2007)
no assertion criteria provided
55.
GRCh37:
Chr12:25398286
GRCh38:
Chr12:25245352
KRASnot specifiedLikely benign
(Nov 1, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr12:25398295
GRCh38:
Chr12:25245361
KRASnot specifiedGO-ESP:0.00015(C)
GO-ESP:0.00037(C)
Benign/Likely benign
(May 23, 2014)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:25403700
GRCh38:
Chr12:25250766
KRASnot specifiedBenign/Likely benign
(May 1, 2014)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr12:25403702-25403721
GRCh38:
Chr12:25250768-25250787
KRASnot specifiedLikely benign
(May 17, 2012)
criteria provided, single submitter
59.
GRCh37:
Chr12:25403721
GRCh38:
Chr12:25250787
KRASnot specifiedGMAF:0.00240(T)Benign/Likely benign
(May 1, 2014)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:25403727
GRCh38:
Chr12:25250793
KRASnot specifiedLikely benign
(Feb 15, 2012)
criteria provided, single submitter
61.
GRCh37:
Chr12:25403795
GRCh38:
Chr12:25250861
KRASnot specifiedGMAF:0.00260(A)Likely benign
(Oct 20, 2011)
criteria provided, single submitter
62.
GRCh37:
Chr12:25403810-25403821
GRCh38:
Chr12:25250876-25250887
KRASnot specifiedUncertain significance
(Oct 18, 2009)
no assertion criteria provided
63.
GRCh37:
Chr12:25403831-25403833
GRCh38:
Chr12:25250897-25250899
KRASnot specifiedGMAF:0.00220(GCT)Likely benign
(Aug 12, 2011)
criteria provided, single submitter
64.
GRCh37:
Chr12:25403833
GRCh38:
Chr12:25250899
KRASNoonan syndrome, not specified, Cardio-facio-cutaneous syndrome
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr12:25403840
GRCh38:
Chr12:25250906
KRASnot specifiedGMAF:0.00020(G)Likely benign
(Mar 29, 2010)
criteria provided, single submitter
66.
GRCh37:
Chr12:25403843-25403851
GRCh38:
Chr12:25250909-25250917
KRASnot specifiedBenign
(Mar 16, 2012)
criteria provided, single submitter
67.
GRCh37:
Chr12:25403851
GRCh38:
Chr12:25250917
KRASnot specifiedGMAF:0.00200(T)Uncertain significance
(Aug 24, 2010)
criteria provided, single submitter
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