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Links from MedGen

Items: 1 to 100 of 744

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:50138988
GRCh38:
Chr19:49635731
RRASNoonan syndromeUncertain significance
(Dec 25, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr19:50143306
GRCh38:
Chr19:49640049
RRASG17VNoonan syndromeUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr19:50140088
GRCh38:
Chr19:49636831
RRASR113WNoonan syndromeUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr19:50140191
GRCh38:
Chr19:49636934
RRASNoonan syndromeLikely benign
(Sep 30, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr19:50143343-50143344
GRCh38:
Chr19:49640086-49640087
RRASA5TNoonan syndromeUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr19:50140137
GRCh38:
Chr19:49636880
RRASNoonan syndromeLikely benign
(Feb 18, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr19:50140194-50140195
GRCh38:
Chr19:49636937-49636938
RRASNoonan syndromeLikely benign
(Apr 14, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:50140332
GRCh38:
Chr19:49637075
RRASC70YInborn genetic diseases, Noonan syndromeUncertain significance
(Jun 22, 2023)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr19:50139070
GRCh38:
Chr19:49635813
RRASH165DNoonan syndromeUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:50143355
GRCh38:
Chr19:49640098
RRASM1LNoonan syndromeUncertain significance
(Sep 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr19:50138978
GRCh38:
Chr19:49635721
RRASNoonan syndromeLikely benign
(May 3, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:50138847
GRCh38:
Chr19:49635590
RRASC215RNoonan syndromeUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:50138986
GRCh38:
Chr19:49635729
RRASNoonan syndromeUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr19:50139859
GRCh38:
Chr19:49636602
RRASNoonan syndromeLikely benign
(Jan 19, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr19:50138992
GRCh38:
Chr19:49635735
RRASR191Wnot specified, Inborn genetic diseases, Noonan syndrome
Uncertain significance
(Sep 26, 2023)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:50143272
GRCh38:
Chr19:49640015
RRASE28DNoonan syndromeUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:50138891
GRCh38:
Chr19:49635634
RRASP200LNoonan syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:50139998
GRCh38:
Chr19:49636741
RRASNoonan syndromeUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:50139113
GRCh38:
Chr19:49635856
RRASNoonan syndromeLikely benign
(Mar 26, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:50139022
GRCh38:
Chr19:49635765
RRASE181KNoonan syndromeUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr19:50138932
GRCh38:
Chr19:49635675
RRASNoonan syndromeLikely benign
(May 26, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr19:50138880
GRCh38:
Chr19:49635623
RRASS204GNoonan syndromeUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:50143312
GRCh38:
Chr19:49640055
RRASR15PNoonan syndromeUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:50140133
GRCh38:
Chr19:49636876
RRASM98VNoonan syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:50143312
GRCh38:
Chr19:49640055
RRASR15QNoonan syndromeUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:50143193
GRCh38:
Chr19:49639936
RRASNoonan syndromeLikely benign
(May 12, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:50139893
GRCh38:
Chr19:49636636
RRASL146MNoonan syndromeUncertain significance
(Dec 10, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr19:50139083
GRCh38:
Chr19:49635826
RRASInborn genetic diseases, Noonan syndromeLikely benign
(Mar 26, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:50143355
GRCh38:
Chr19:49640098
RRASM1VNoonan syndromeUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr19:50139118-50139119
GRCh38:
Chr19:49635861-49635862
RRASNoonan syndromeBenign
(Mar 17, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr19:50140130
GRCh38:
Chr19:49636873
RRASR99CInborn genetic diseases, Noonan syndromeUncertain significance
(Jun 5, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:50139109
GRCh38:
Chr19:49635852
RRASV152INoonan syndromeUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr19:50143313
GRCh38:
Chr19:49640056
RRASR15WNoonan syndromeUncertain significance
(May 21, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr22:21342298
GRCh38:
Chr22:20988009
LZTR1Schwannomatosis 2, Noonan syndromePathogenic
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr19:50140173
GRCh38:
Chr19:49636916
RRASInborn genetic diseases, Noonan syndromeLikely benign
(Feb 22, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr19:50140379
GRCh38:
Chr19:49637122
RRASNoonan syndrome, Inborn genetic diseasesLikely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr19:50138848
GRCh38:
Chr19:49635591
RRASInborn genetic diseases, Noonan syndromeLikely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr19:50138860
GRCh38:
Chr19:49635603
RRASInborn genetic diseases, Noonan syndromeLikely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr19:50139065
GRCh38:
Chr19:49635808
RRASNoonan syndrome, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Jan 11, 2022)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr19:50139934
GRCh38:
Chr19:49636677
RRASR132HInborn genetic diseases, Noonan syndromeUncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr19:50143279
GRCh38:
Chr19:49640022
RRASP26LNoonan syndromeUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:50139088
GRCh38:
Chr19:49635831
RRASA159PNoonan syndromeUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:39347560
GRCh38:
Chr2:39120419
LOC129933535, SOS1Q2KNoonan syndromeUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr19:50140287
GRCh38:
Chr19:49637030
RRASNoonan syndromeLikely benign
(Oct 7, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr19:50138845
GRCh38:
Chr19:49635588
RRASNoonan syndrome, Inborn genetic diseasesLikely benign
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr19:50139858
GRCh38:
Chr19:49636601
RRASNoonan syndromeLikely benign
(Jul 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr19:50139116
GRCh38:
Chr19:49635859
RRASNoonan syndromeLikely benign
(Jul 13, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr19:50143290
GRCh38:
Chr19:49640033
RRASNoonan syndromeLikely benign
(Feb 28, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr19:50143314
GRCh38:
Chr19:49640057
RRASNoonan syndromeLikely benign
(Jul 22, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:50143281
GRCh38:
Chr19:49640024
RRASNoonan syndromeLikely benign
(May 13, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:50143313
GRCh38:
Chr19:49640056
RRASInborn genetic diseases, Noonan syndromeLikely benign
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr19:50138930
GRCh38:
Chr19:49635673
RRASNoonan syndromeLikely benign
(Jul 25, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:50138866
GRCh38:
Chr19:49635609
RRASNoonan syndromeLikely benign
(Nov 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr19:50140003
GRCh38:
Chr19:49636746
RRASNoonan syndromeLikely benign
(Aug 20, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:50140134
GRCh38:
Chr19:49636877
RRASNoonan syndromeLikely benign
(Jun 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr19:50140002-50140003
GRCh38:
Chr19:49636745-49636746
RRASNoonan syndromeLikely benign
(Sep 9, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr19:50138971
GRCh38:
Chr19:49635714
RRASNoonan syndromeLikely benign
(Sep 25, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr19:50143254
GRCh38:
Chr19:49639997
RRASNoonan syndromeLikely benign
(Apr 12, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr19:50138838
GRCh38:
Chr19:49635581
RRASNoonan syndrome, Inborn genetic diseasesLikely benign
(Feb 5, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr19:50139047
GRCh38:
Chr19:49635790
RRASNoonan syndromeLikely benign
(Mar 13, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:50138936
GRCh38:
Chr19:49635679
RRASNoonan syndromeLikely benign
(Jul 19, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:50139880
GRCh38:
Chr19:49636623
RRASR150PNoonan syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:50139871
GRCh38:
Chr19:49636614
RRASNoonan syndromeUncertain significance
(Aug 9, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr19:50139028
GRCh38:
Chr19:49635771
RRASV179MNoonan syndromeUncertain significance
(Oct 1, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:50143275
GRCh38:
Chr19:49640018
RRASNoonan syndrome, RRAS-related condition, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Nov 16, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr19:50139966
GRCh38:
Chr19:49636709
RRASNoonan syndrome, Inborn genetic diseasesLikely benign
(May 16, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr19:50143354
GRCh38:
Chr19:49640097
RRASM1KNoonan syndromeUncertain significance
(Jul 6, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr19:50143286
GRCh38:
Chr19:49640029
RRASP24SNoonan syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr19:50143281-50143282
GRCh38:
Chr19:49640024-49640025
RRASP26fsNoonan syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr19:50143241
GRCh38:
Chr19:49639984
RRASG39CNoonan syndromeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr19:50138933
GRCh38:
Chr19:49635676
RRASNoonan syndromeUncertain significance
(Sep 29, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr19:50139022
GRCh38:
Chr19:49635765
RRASE181QNoonan syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr19:50139036
GRCh38:
Chr19:49635779
RRASR176HInborn genetic diseases, Noonan syndromeUncertain significance
(Oct 29, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr19:50143326
GRCh38:
Chr19:49640069
RRASNoonan syndromeLikely benign
(Jul 25, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr19:50140314
GRCh38:
Chr19:49637057
RRASP76LNoonan syndromeUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:50139973
GRCh38:
Chr19:49636716
RRASV119GNoonan syndromeUncertain significance
(Sep 21, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr19:50143186
GRCh38:
Chr19:49639929
RRASNoonan syndromeUncertain significance
(Nov 22, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr19:50139907
GRCh38:
Chr19:49636650
RRASG141ANoonan syndromeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr19:50140129
GRCh38:
Chr19:49636872
RRASR99HNoonan syndromeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr19:50140341
GRCh38:
Chr19:49637084
RRAST67MNoonan syndromeUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr19:50139947
GRCh38:
Chr19:49636690
RRASR128WNoonan syndromeUncertain significance
(Jul 31, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr19:50140309
GRCh38:
Chr19:49637052
RRASR78WInborn genetic diseases, Noonan syndromeUncertain significance
(Apr 19, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr19:50143303
GRCh38:
Chr19:49640046
RRASG18ENoonan syndromeUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr19:50139872
GRCh38:
Chr19:49636615
RRASNoonan syndromeUncertain significance
(Oct 3, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr19:50139917
GRCh38:
Chr19:49636660
RRASV138LNoonan syndromeUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr19:50139082
GRCh38:
Chr19:49635825
RRASG161SNoonan syndromeUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:50139076
GRCh38:
Chr19:49635819
RRASS163PInborn genetic diseases, Noonan syndromeUncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr19:50143327
GRCh38:
Chr19:49640070
RRASG10ANoonan syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr19:50140294
GRCh38:
Chr19:49637037
RRASNoonan syndromeUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr19:50140378
GRCh38:
Chr19:49637121
RRASV55MNoonan syndromeUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr19:50139003
GRCh38:
Chr19:49635746
RRASV187ANoonan syndromeUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr19:50139102
GRCh38:
Chr19:49635845
RRASR154QNoonan syndrome, Inborn genetic diseasesUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr19:50138844
GRCh38:
Chr19:49635587
RRASV216IInborn genetic diseases, Noonan syndromeUncertain significance
(Dec 15, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr19:50143200
GRCh38:
Chr19:49639943
RRASNoonan syndromeUncertain significance
(Oct 14, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr19:50143258
GRCh38:
Chr19:49640001
RRASV33ANoonan syndromeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr19:50140308
GRCh38:
Chr19:49637051
RRASR78QNoonan syndromeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr19:50143318
GRCh38:
Chr19:49640061
RRASR13QNoonan syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr22:21344766
GRCh38:
Chr22:20990477
LZTR1G248ENoonan syndromeLikely pathogenicno assertion criteria provided
99.
GRCh37:
Chr11:14380350
GRCh38:
Chr11:14358804
LOC130005368, RRAS2G23Cnot provided, Noonan syndromePathogenic/Likely pathogenic
(Oct 31, 2023)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:112724636
GRCh38:
Chr10:110964878
SHOC2L174FNoonan syndromeLikely pathogenic
(May 22, 2020)
no assertion criteria provided
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