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Items: 100

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:21344713
GRCh38:
Chr22:20990424
LZTR1N230KNoonan syndrome 1Likely pathogenicno assertion criteria provided
2.
GRCh37:
Chr14:31535446
GRCh38:
Chr14:31066240
AP4S1R15QNoonan syndrome 1Uncertain significance
(Dec 15, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr12:112891167
GRCh38:
Chr12:112453363
PTPN11Noonan syndrome 1Uncertain significance
(Dec 29, 2000)
criteria provided, single submitter
4.
GRCh37:
Chr12:112919990
GRCh38:
Chr12:112482186
PTPN11K401T, K402TNoonan syndrome 1Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr12:112926873
GRCh38:
Chr12:112489069
PTPN11R497Q, R498Q, R502QNoonan syndrome 1Likely pathogenic
(May 6, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr12:112926875
GRCh38:
Chr12:112489071
PTPN11S498P, S499P, S503PNoonan syndrome 1Likely pathogenic
(Aug 4, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr7:140481357-140481359
GRCh38:
Chr7:140781557-140781559
BRAFMelanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Lung cancer, RASopathy, not specified
Benign/Likely benign
(Nov 14, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr15:66774237
GRCh38:
Chr15:66481899
MAP2K1Melorheostosis, Cardiofaciocutaneous syndrome 3, Noonan syndrome 1,
RASopathy
Likely benign
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr7:140481470
GRCh38:
Chr7:140781670
BRAFMelanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Lung cancer, RASopathy, Cardiovascular phenotype
Likely benign
(Jul 17, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:112856940
GRCh38:
Chr12:112419136
PTPN11Metachondromatosis, Noonan syndrome 1, Juvenile myelomonocytic leukemia,
LEOPARD syndrome 1, RASopathy
Likely benign
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:140477893
GRCh38:
Chr7:140778093
BRAFMelanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Lung cancer, RASopathy
Likely benign
(Mar 14, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:140534615
GRCh38:
Chr7:140834815
BRAFRASopathy, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Melanoma, cutaneous malignant, susceptibility to, 1,
Colorectal cancer, Lung cancer
Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:140449072
GRCh38:
Chr7:140749272
BRAFRASopathy, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Melanoma, cutaneous malignant, susceptibility to, 1,
Colorectal cancer, Lung cancer
Likely benign
(Dec 23, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:112924287
GRCh38:
Chr12:112486483
PTPN11RASopathy, Noonan syndrome 1, Juvenile myelomonocytic leukemia,
Metachondromatosis, LEOPARD syndrome 1
Likely benign
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr7:140434589-140434597
GRCh38:
Chr7:140734789-140734797
BRAFRASopathy, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Melanoma, cutaneous malignant, susceptibility to, 1,
Colorectal cancer, Lung cancer
Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:112888273
GRCh38:
Chr12:112450469
PTPN11E97K, E96KJuvenile myelomonocytic leukemia, Noonan syndrome 1, Metachondromatosis,
LEOPARD syndrome 1, RASopathy
Uncertain significance
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:112888168
GRCh38:
Chr12:112450364
PTPN11Y62N, Y61NRASopathy, Noonan syndrome 1Likely pathogenic
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:140624380
GRCh38:
Chr7:140924580
BRAFA42SRASopathy, Lung cancer, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Noonan syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr12:112926878
GRCh38:
Chr12:112489074
PTPN11Q504E, Q500E, Q499ENoonan syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
LEOPARD syndrome 1, not provided, RASopathy
Uncertain significance
(Nov 20, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr7:140624478
GRCh38:
Chr7:140924678
BRAFG9ACardiovascular phenotype, RASopathy, Lung cancer,
Colorectal cancer, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr12:112940033
GRCh38:
Chr12:112502229
PTPN11P561L, P566L, P562LRASopathy, LEOPARD syndrome 1, Noonan syndrome 1,
Juvenile myelomonocytic leukemia, Metachondromatosis
Uncertain significance
(Oct 5, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr12:112892405
GRCh38:
Chr12:112454601
PTPN11D188G, D187GNoonan syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
LEOPARD syndrome 1, RASopathy
Uncertain significance
(Dec 9, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr12:112910761
GRCh38:
Chr12:112472957
PTPN11Q257R, Q256RRASopathy, Noonan syndrome 1, Juvenile myelomonocytic leukemia,
Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:140434558
GRCh38:
Chr7:140734758
BRAFI662V, I677V, I714V, I754V, I626V, I680V, I717V, I692VRASopathy, Cardiofaciocutaneous syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1
Uncertain significance
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:166246042
GRCh38:
Chr2:165389532
SCN2AA1909VSeizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy, 11,
Noonan syndrome 1, not provided
Uncertain significance
(Dec 15, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr12:112893802
GRCh38:
Chr12:112455998
PTPN11R231*, R230*Noonan syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
LEOPARD syndrome 1, RASopathy
Pathogenic/Likely pathogenic
(Jul 22, 2021)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:112884192
GRCh38:
Chr12:112446388
PTPN11L43VLEOPARD syndrome 1, RASopathy, Noonan syndrome 1,
LEOPARD syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr12:112888313
GRCh38:
Chr12:112450509
PTPN11E109G, E110GNoonan syndrome 1, LEOPARD syndrome 1, Juvenile myelomonocytic leukemia,
Metachondromatosis, not specified
Uncertain significance
(Mar 30, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr7:140434579-140434580
GRCh38:
Chr7:140734779-140734780
BRAFNoonan syndrome and Noonan-related syndrome, Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer,
Colorectal cancer, LEOPARD syndrome 3, Noonan syndrome 7,
Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, RASopathy
Benign/Likely benign
(Sep 16, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr7:140494187
GRCh38:
Chr7:140794387
BRAFR266Q, R302Q, R320Q, R354Q, R357Qnot provided, RASopathy, Melanoma, cutaneous malignant, susceptibility to, 1,
Colorectal cancer, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Lung cancer, Cardiofaciocutaneous syndrome 1
Uncertain significance
(Oct 17, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:112915684
GRCh38:
Chr12:112477880
PTPN11Cardiovascular phenotype, not provided, LEOPARD syndrome 1,
Juvenile myelomonocytic leukemia, Noonan syndrome 1, Metachondromatosis
Conflicting interpretations of pathogenicity
(Jan 7, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr7:140534653
GRCh38:
Chr7:140834853
BRAFS35N, S53N, S87Nnot provided, Noonan syndrome 1, Cardiofaciocutaneous syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Colorectal cancer,
Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1
Uncertain significance
(Apr 12, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr7:140439757
GRCh38:
Chr7:140739957
BRAFRASopathy, Noonan syndrome 1, Cardiofaciocutaneous syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Colorectal cancer,
Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1, not provided
Likely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:112915466
GRCh38:
Chr12:112477662
PTPN11R288G, R289GNoonan syndrome 1, LEOPARD syndrome 1, Juvenile myelomonocytic leukemia,
Metachondromatosis, not provided, RASopathy
Conflicting interpretations of pathogenicity
(Jul 3, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr7:140453087
GRCh38:
Chr7:140753287
BRAFRASopathy, Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Lung cancer, Noonan syndrome 1, Cardiovascular phenotype
Likely benign
(Oct 20, 2021)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:140454009
GRCh38:
Chr7:140754209
BRAFMelanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3, Noonan syndrome 7,
Colorectal cancer, Cardiofaciocutaneous syndrome 1, Lung cancer,
Noonan syndrome 1, RASopathy
Likely benign
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr7:140500227
GRCh38:
Chr7:140800427
BRAFRASopathy, Cardiovascular phenotype, not provided,
Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, Lung cancer,
Colorectal cancer, Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3,
Noonan syndrome 7
Conflicting interpretations of pathogenicity
(Sep 23, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr1:115256538
GRCh38:
Chr1:114713917
NRAST58IColorectal cancer, not provided, Noonan syndrome and Noonan-related syndrome,
RASopathy
Pathogenic/Likely pathogenic
(Oct 15, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr7:140624392
GRCh38:
Chr7:140924592
BRAFA38PCardiovascular phenotype, RASopathy, Melanoma, cutaneous malignant, susceptibility to, 1,
Lung cancer, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7
Uncertain significance
(Mar 30, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:112919916
GRCh38:
Chr12:112482112
PTPN11Cardiovascular phenotype, not specified, RASopathy,
Noonan syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
LEOPARD syndrome 1
Likely benign
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:112915441
GRCh38:
Chr12:112477637
PTPN11Noonan syndrome 1Uncertain significance
(Oct 8, 2020)
no assertion criteria provided
42.
GRCh37:
Chr12:112888163
GRCh38:
Chr12:112450359
PTPN11G59D, G60Dnot providedLikely pathogenic
(Dec 1, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr12:112910763
GRCh38:
Chr12:112472959
PTPN11E257K, E258KNoonan syndrome 1Likely pathogenic
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:112926276
GRCh38:
Chr12:112488472
PTPN11I469T, I470T, I474TNoonan syndrome 1Likely pathogenic
(Jul 9, 2020)
criteria provided, single submitter
45.
GRCh37:
Chr12:112893774
GRCh38:
Chr12:112455970
PTPN11I220M, I221MProportionate short stature, Noonan syndrome 1, LEOPARD syndrome 1
Pathogenic/Likely pathogenic
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:112924336
GRCh38:
Chr12:112486532
PTPN11V427L, V428L, V432LNoonan syndrome 1, RASopathy, Intellectual disability
Conflicting interpretations of pathogenicity
(Sep 2, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr12:112888206
GRCh38:
Chr12:112450402
PTPN11Juvenile myelomonocytic leukemia, Metachondromatosis, Noonan syndrome 1,
LEOPARD syndrome 1, RASopathy
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr7:140482955
GRCh38:
Chr7:140783155
BRAFS342P, S397P, S434P, S360P, S394P, S306PLEOPARD syndrome 3, Noonan syndrome 7, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Melanoma, cutaneous malignant, susceptibility to, 1,
Cardiofaciocutaneous syndrome 1, Colorectal cancer, Lung cancer,
RASopathy
Uncertain significance
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:112946225
GRCh38:
Chr12:112508421
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr12:112946204
GRCh38:
Chr12:112508400
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr12:112944634
GRCh38:
Chr12:112506830
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr12:112944280
GRCh38:
Chr12:112506476
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr12:112944278
GRCh38:
Chr12:112506474
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr12:112945775
GRCh38:
Chr12:112507971
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr12:112945212
GRCh38:
Chr12:112507408
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr12:112944398
GRCh38:
Chr12:112506594
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr12:112944269
GRCh38:
Chr12:112506465
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr12:112944070
GRCh38:
Chr12:112506266
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr12:112856625
GRCh38:
Chr12:112418821
PTPN11, RPL6Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr12:112944397
GRCh38:
Chr12:112506593
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr12:112944395
GRCh38:
Chr12:112506591
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr12:112856845
GRCh38:
Chr12:112419041
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr12:112856839
GRCh38:
Chr12:112419035
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr12:112856599
GRCh38:
Chr12:112418795
PTPN11, RPL6Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr12:112945746
GRCh38:
Chr12:112507942
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr12:112945692
GRCh38:
Chr12:112507888
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr12:112945116
GRCh38:
Chr12:112507312
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr12:112947567
GRCh38:
Chr12:112509763
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr12:112946418
GRCh38:
Chr12:112508614
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr12:112945674
GRCh38:
Chr12:112507870
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr12:112945426
GRCh38:
Chr12:112507622
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr12:112945015
GRCh38:
Chr12:112507211
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr12:112944316
GRCh38:
Chr12:112506512
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr12:112943660
GRCh38:
Chr12:112505856
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Feb 16, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr12:112856765
GRCh38:
Chr12:112418961
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr12:112856755
GRCh38:
Chr12:112418951
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr12:112856740
GRCh38:
Chr12:112418936
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr12:112924325
GRCh38:
Chr12:112486521
PTPN11P423L, P428L, P424LNoonan syndrome 1Likely pathogenic
(Sep 26, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr13:20763516
GRCh38:
Chr13:20189377
GJB2F69LNoonan syndrome 1Pathogeniccriteria provided, single submitter
80.
GRCh37:
Chr12:112910753-112910755
GRCh38:
Chr12:112472949-112472951
PTPN11Q257del, Q256delJuvenile myelomonocytic leukemia, Metachondromatosis, Noonan syndrome 1,
LEOPARD syndrome 1, RASopathy
Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:39249914-39249916
GRCh38:
Chr2:39022773-39022775
SOS1R552del, R545delNoonan syndrome 1Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr7:140482929
GRCh38:
Chr7:140783129
BRAFColorectal cancer, Lung cancer, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3,
Noonan syndrome 7, Cardiovascular phenotype, RASopathy,
not provided
Likely benign
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:112892458
GRCh38:
Chr12:112454654
PTPN11RASopathy, Cardiovascular phenotype, Juvenile myelomonocytic leukemia,
Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1,
not provided
Likely benign
(Dec 22, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:155880462
GRCh38:
Chr1:155910671
RIT1G31R, G48RNoonan syndrome 1Pathogeniccriteria provided, single submitter
85.
GRCh37:
Chr1:155874286
GRCh38:
Chr1:155904495
RIT1F46S, F82S, F99SNoonan syndrome 1Pathogeniccriteria provided, single submitter
86.
GRCh37:
Chr7:140482930
GRCh38:
Chr7:140783130
BRAFP402H, P314H, P350H, P368H, P405H, P442HColorectal cancer, Lung cancer, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3,
Noonan syndrome 7, RASopathy, not provided,
Noonan syndrome and Noonan-related syndrome, Hypertrophic cardiomyopathy ...see more
Uncertain significance
(May 19, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr12:112915768
GRCh38:
Chr12:112477964
PTPN11Noonan syndrome 1, Metachondromatosis, Juvenile myelomonocytic leukemia,
LEOPARD syndrome 1, RASopathy
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr22:21344753
GRCh38:
Chr22:20990464
LZTR1S244Pnot providedLikely pathogenic
(Sep 14, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr2:39241979
GRCh38:
Chr2:39014838
SOS1F623I, F616INoonan syndrome and Noonan-related syndromeLikely pathogenic
(Feb 28, 2019)
reviewed by expert panel
FDA Recognized Database
90.
GRCh37:
Chr12:112919929
GRCh38:
Chr12:112482125
PTPN11V382I, V381ICardiovascular phenotype, not provided, Metachondromatosis,
Noonan syndrome 1, LEOPARD syndrome 1, Juvenile myelomonocytic leukemia,
RASopathy
Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:112924415
GRCh38:
Chr12:112486611
PTPN11P454L, P458L, P453Lnot provided, LEOPARD syndrome 1, Noonan syndrome 1,
Metachondromatosis
Uncertain significance
(May 15, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr15:66781553
GRCh38:
Chr15:66489215
MAP2K1P321SCardiovascular phenotype, Noonan syndrome 1, Cardiofaciocutaneous syndrome 3,
not provided, RASopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr1:155880484
GRCh38:
Chr1:155910693
RIT1K23N, K40NNoonan syndrome 8, not provided, Noonan syndrome 1
Pathogenic
(Nov 30, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:140476699
GRCh38:
Chr7:140776899
BRAFnot provided, RASopathy, Lung cancer,
Noonan syndrome 7, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Colorectal cancer, Noonan syndrome 1, LEOPARD syndrome 3
Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr7:140449139
GRCh38:
Chr7:140749339
BRAFY647C, Y559C, Y595C, Y610C, Y613C, Y625C, Y650C, Y687Cnot provided, Lung carcinoma, Noonan syndrome 7,
Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, LEOPARD syndrome 3
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:112910779
GRCh38:
Chr12:112472975
PTPN11Y263C, Y262CCardiovascular phenotype, not provided, Noonan syndrome 1,
Juvenile myelomonocytic leukemia, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Nov 20, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr22:21345973
GRCh38:
Chr22:20991684
LZTR1R283QNoonan syndrome 10, RASopathy, Noonan syndrome and Noonan-related syndrome,
not provided
Conflicting interpretations of pathogenicity
(Feb 23, 2023)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr12:112884192
GRCh38:
Chr12:112446388
PTPN11L43FNoonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis,
Juvenile myelomonocytic leukemia, not specified, RASopathy,
not provided
Uncertain significance
(Feb 1, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:9013788
GRCh38:
Chr12:8861192
A2ML1N1133H, N642HNoonan syndrome 1Uncertain significance
(Aug 3, 2018)
no assertion criteria provided
100.
GRCh37:
Chr1:21894606
GRCh38:
Chr1:21568113
ALPLG220R, G143R, G165Rnot provided, Infantile hypophosphatasia, Noonan syndrome 1
Conflicting interpretations of pathogenicity
(Jul 28, 2022)
criteria provided, conflicting interpretations
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