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Links from MedGen

Items: 87

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:112724261
GRCh38:
Chr10:110964503
SHOC2D49NNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Apr 3, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr10:112764529
GRCh38:
Chr10:111004771
SHOC2V334I, V380INoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Apr 4, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr10:112724714
GRCh38:
Chr10:110964956
SHOC2R200CNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Nov 11, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr10:112724168
GRCh38:
Chr10:110964410
SHOC2V18LCardiovascular phenotype, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Uncertain significance
(Mar 16, 2023)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:112771371
GRCh38:
Chr10:111011613
SHOC2T469I, T515INoonan syndrome-like disorder with loose anagen hair 1Uncertain significancecriteria provided, single submitter
6.
GRCh37:
Chr10:112745415
GRCh38:
Chr10:110985657
SHOC2V245IRASopathy, Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Apr 28, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:112771382
GRCh38:
Chr10:111011624
SHOC2L519V, L473VRASopathy, Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(May 12, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:112771487
GRCh38:
Chr10:111011729
SHOC2S508G, S554GRASopathy, Cardiovascular phenotype, Noonan syndrome-like disorder with loose anagen hair 1
Uncertain significance
(Aug 18, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:112724273
GRCh38:
Chr10:110964515
SHOC2G53RNoonan syndrome-like disorder with loose anagen hair 1Likely pathogenic
(Jan 5, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:112745518
GRCh38:
Chr10:110985760
SHOC2T279INoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Sep 26, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr10:112724622-112724623
GRCh38:
Chr10:110964864-110964865
SHOC2K169fsNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Apr 6, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr10:112724349
GRCh38:
Chr10:110964591
SHOC2A78VRASopathy, Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:112769487
GRCh38:
Chr10:111009729
SHOC2N434T, N480TRASopathy, Cardiovascular phenotype, Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(Mar 27, 2022)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr10:112745489-112745490
GRCh38:
Chr10:110985731-110985732
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Pathogenic
(Jul 30, 2020)
no assertion criteria provided
15.
GRCh37:
Chr10:112724735
GRCh38:
Chr10:110964977
SHOC2V207MInborn genetic diseases, Noonan syndrome-like disorder with loose anagen hair 1, RASopathy
Uncertain significance
(Mar 8, 2023)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:112679391
GRCh38:
Chr10:110919633
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr10:112679386
GRCh38:
Chr10:110919628
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr10:112679304
GRCh38:
Chr10:110919546
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr10:112772401
GRCh38:
Chr10:111012643
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr10:112772261
GRCh38:
Chr10:111012503
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr10:112771596
GRCh38:
Chr10:111011838
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr10:112773084
GRCh38:
Chr10:111013326
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr10:112772957
GRCh38:
Chr10:111013199
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr10:112767342
GRCh38:
Chr10:111007584
SHOC2Cardiovascular phenotype, Noonan syndrome-like disorder with loose anagen hair 1, RASopathy
Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:112772845
GRCh38:
Chr10:111013087
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr10:112772566
GRCh38:
Chr10:111012808
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr10:112772555
GRCh38:
Chr10:111012797
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr10:112724172
GRCh38:
Chr10:110964414
SHOC2P19RNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr10:112679430
GRCh38:
Chr10:110919672
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr10:112724148
GRCh38:
Chr10:110964390
SHOC2S11YNoonan syndrome-like disorder with loose anagen hair 1, not providedUncertain significance
(Apr 27, 2017)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:112771592
GRCh38:
Chr10:111011834
SHOC2not specified, Noonan syndrome-like disorder with loose anagen hair 1Benign
(Apr 26, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:112724633
GRCh38:
Chr10:110964875
SHOC2M173VNoonan syndrome-like disorder with loose anagen hair, not provided, Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(Mar 31, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr10:112724630
GRCh38:
Chr10:110964872
SHOC2R172WRASopathy, not specified, Noonan syndrome-like disorder with loose anagen hair 1
Uncertain significance
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:112773351
GRCh38:
Chr10:111013593
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr10:112773342
GRCh38:
Chr10:111013584
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr10:112773151
GRCh38:
Chr10:111013393
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr10:112773079
GRCh38:
Chr10:111013321
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr10:112773063
GRCh38:
Chr10:111013305
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr10:112773063
GRCh38:
Chr10:111013305
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr10:112773061-112773062
GRCh38:
Chr10:111013303-111013304
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr10:112773059
GRCh38:
Chr10:111013301
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr10:112772900
GRCh38:
Chr10:111013142
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr10:112772899
GRCh38:
Chr10:111013141
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr10:112772821
GRCh38:
Chr10:111013063
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr10:112772794
GRCh38:
Chr10:111013036
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr10:112772682
GRCh38:
Chr10:111012924
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr10:112772637-112772638
GRCh38:
Chr10:111012879-111012880
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr10:112772534
GRCh38:
Chr10:111012776
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr10:112772490
GRCh38:
Chr10:111012732
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr10:112772349
GRCh38:
Chr10:111012591
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr10:112772273
GRCh38:
Chr10:111012515
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr10:112772232
GRCh38:
Chr10:111012474
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr10:112772192
GRCh38:
Chr10:111012434
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr10:112772190
GRCh38:
Chr10:111012432
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr10:112772094
GRCh38:
Chr10:111012336
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr10:112772082-112772085
GRCh38:
Chr10:111012324-111012327
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr10:112771980
GRCh38:
Chr10:111012222
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr10:112771740
GRCh38:
Chr10:111011982
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Benign
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr10:112769150-112769152
GRCh38:
Chr10:111009392-111009394
SHOC2Noonan syndrome-like disorder with loose anagen hair 1, RASopathyConflicting interpretations of pathogenicity
(Nov 7, 2019)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr10:112767426
GRCh38:
Chr10:111007668
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr10:112745456
GRCh38:
Chr10:110985698
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr10:112724834-112724836
GRCh38:
Chr10:110965076-110965078
SHOC2not provided, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:112724817
GRCh38:
Chr10:110965059
SHOC2I234TNoonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr10:112679396
GRCh38:
Chr10:110919638
SHOC2Noonan syndrome-like disorder with loose anagen hair 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr10:112724726
GRCh38:
Chr10:110964968
SHOC2I204VNoonan syndrome-like disorder with loose anagen hair 1, not specified, not provided,
RASopathy
Conflicting interpretations of pathogenicity
(Oct 2, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:112767366
GRCh38:
Chr10:111007608
SHOC2Q413H, Q367Hnot specified, Noonan syndrome-like disorder with loose anagen hair 1, not provided,
RASopathy
Benign/Likely benign
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:112745488
GRCh38:
Chr10:110985730
SHOC2Q269RNoonan syndrome-like disorder with loose anagen hair 1, not specified, RASopathy
Conflicting interpretations of pathogenicity
(Feb 27, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr10:112724635
GRCh38:
Chr10:110964877
SHOC2M173IRASopathyUncertain significance
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
69.
GRCh37:
Chr10:112724471
GRCh38:
Chr10:110964713
SHOC2I119VCardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, RASopathy,
not provided, Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr10:112724154
GRCh38:
Chr10:110964396
SHOC2E13ARASopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
71.
GRCh37:
Chr10:112771579
GRCh38:
Chr10:111011821
SHOC2Noonan syndrome and Noonan-related syndrome, not specified, Noonan syndrome-like disorder with loose anagen hair 1
Benign
(Nov 15, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:112764352
GRCh38:
Chr10:111004594
SHOC2Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not specified,
RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:112724286
GRCh38:
Chr10:110964528
SHOC2S57FCardiovascular phenotype, not specified, not provided,
RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(May 6, 2023)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr10:112723938
GRCh38:
Chr10:110964180
SHOC2not specified, Noonan syndrome-like disorder with loose anagen hair 1Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:112771421
GRCh38:
Chr10:111011663
SHOC2S532G, S486GRASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
76.
GRCh37:
Chr10:112769464
GRCh38:
Chr10:111009706
SHOC2RASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
77.
GRCh37:
Chr10:112745535
GRCh38:
Chr10:110985777
SHOC2not specified, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:112745370
GRCh38:
Chr10:110985612
SHOC2not specified, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Benign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr10:112679406
GRCh38:
Chr10:110919648
SHOC2not specified, Noonan syndrome-like disorder with loose anagen hair 1Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr10:112724573
GRCh38:
Chr10:110964815
SHOC2RASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
81.
GRCh37:
Chr10:112764594
GRCh38:
Chr10:111004836
SHOC2not specified, not provided, Noonan syndrome-like disorder with loose anagen hair 1
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:112764561
GRCh38:
Chr10:111004803
SHOC2Noonan syndrome and Noonan-related syndrome, not specified, RASopathy,
Noonan syndrome-like disorder with loose anagen hair 1
Benign/Likely benign
(Dec 8, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:112724190
GRCh38:
Chr10:110964432
SHOC2E25GNoonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, not specified,
not provided, RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr10:112724126
GRCh38:
Chr10:110964368
SHOC2S4RRASopathyBenign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
85.
GRCh37:
Chr10:112724003
GRCh38:
Chr10:110964245
SHOC2not provided, Noonan syndrome-like disorder with loose anagen hair 1Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr10:112723958
GRCh38:
Chr10:110964200
SHOC2Noonan syndrome and Noonan-related syndrome, not specified, not provided,
Noonan syndrome-like disorder with loose anagen hair 1
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr10:112724120
GRCh38:
Chr10:110964362
SHOC2S2GNoonan syndrome-like disorder with loose anagen hair 1Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
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