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Items: 1 to 100 of 314

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:112919880
GRCh38:
Chr12:112482076
PTPN11S364R, S365RNoonan syndrome 1Uncertain significance
(Jul 21, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr22:21344713
GRCh38:
Chr22:20990424
LZTR1N230KNoonan syndrome 1Likely pathogenicno assertion criteria provided
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
BRAFRASopathy, not specified, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer
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
BRAFCardiovascular phenotype, RASopathy, Cardiofaciocutaneous syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, Colorectal cancer
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
BRAFRASopathy, Cardiofaciocutaneous syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1		Likely benign
(Mar 14, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:140534615
GRCh38:
Chr7:140834815
BRAFCardiofaciocutaneous syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7,
Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1,
Colorectal cancer, RASopathy		Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:140449072
GRCh38:
Chr7:140749272
BRAFRASopathy, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, Colorectal cancer,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1		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, Melanoma, cutaneous malignant, susceptibility to, 1,
Noonan syndrome 1, Colorectal cancer, LEOPARD syndrome 3,
Noonan syndrome 7, 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, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan 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, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Lung cancer, Colorectal cancer, RASopathy
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, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer		Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
25.
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
26.
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
27.
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
28.
GRCh37:
Chr7:140434579-140434580
GRCh38:
Chr7:140734779-140734780
BRAFRASopathy, Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer,
Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Noonan syndrome and Noonan-related syndrome
Benign/Likely benign
(Sep 16, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr7:140494187
GRCh38:
Chr7:140794387
BRAF, LOC126860202R266Q, R302Q, R320Q, R354Q, R357QRASopathy, Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1,
LEOPARD syndrome 3, Noonan syndrome 7, Noonan syndrome 1,
Cardiofaciocutaneous syndrome 1, Colorectal cancer, not provided
Uncertain significance
(Oct 17, 2021)		criteria provided, multiple submitters, no conflicts
30.
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
31.
GRCh37:
Chr7:140534653
GRCh38:
Chr7:140834853
BRAFS35N, S53N, S87NLEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Colorectal cancer, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, not provided		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:140439757
GRCh38:
Chr7:140739957
BRAFRASopathy, not provided, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, Colorectal cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1
Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
33.
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
34.
GRCh37:
Chr7:140453087
GRCh38:
Chr7:140753287
BRAFCardiovascular phenotype, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, Colorectal cancer, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, RASopathy
Likely benign
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:140454009
GRCh38:
Chr7:140754209
BRAFMelanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1,
Colorectal cancer, LEOPARD syndrome 3, Noonan syndrome 7,
Lung cancer, RASopathy		Likely benign
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:140500227
GRCh38:
Chr7:140800427
BRAFCardiovascular phenotype, RASopathy, not provided,
Noonan syndrome 1, Cardiofaciocutaneous syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1		Conflicting interpretations of pathogenicity
(Sep 23, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr1:115256538
GRCh38:
Chr1:114713917
NRAST58INoonan syndrome and Noonan-related syndrome, not provided, Colorectal cancer,
RASopathy		Pathogenic/Likely pathogenic
(Oct 15, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr7:140624392
GRCh38:
Chr7:140924592
BRAFA38PColorectal cancer, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1,
Cardiofaciocutaneous syndrome 1, RASopathy, Cardiovascular phenotype
Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
39.
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
40.
GRCh37:
Chr12:112915441
GRCh38:
Chr12:112477637
PTPN11Noonan syndrome 1Uncertain significance
(Oct 8, 2020)		no assertion criteria provided
41.
GRCh37:
Chr12:112888163
GRCh38:
Chr12:112450359
PTPN11G59D, G60Dnot providedLikely pathogenic
(Dec 1, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr12:112910763
GRCh38:
Chr12:112472959
PTPN11E257K, E258KNoonan syndrome 1Likely pathogenic
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:112926276
GRCh38:
Chr12:112488472
PTPN11I469T, I470T, I474TNoonan syndrome 1Likely pathogenic
(Jul 9, 2020)		criteria provided, single submitter
44.
GRCh37:
Chr12:112893774
GRCh38:
Chr12:112455970
PTPN11I220M, I221MLEOPARD syndrome 1, Noonan syndrome 1, Proportionate short stature
Pathogenic/Likely pathogenic
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr12:112924336
GRCh38:
Chr12:112486532
PTPN11V427L, V428L, V432LRASopathy, Noonan syndrome 1, Intellectual disability
Conflicting interpretations of pathogenicity
(Sep 2, 2022)		criteria provided, conflicting interpretations
46.
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
47.
GRCh37:
Chr7:140482955
GRCh38:
Chr7:140783155
BRAFS342P, S397P, S434P, S360P, S394P, S306PMelanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Lung cancer, RASopathy, LEOPARD syndrome 3,
Noonan syndrome 7		Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr12:112946225
GRCh38:
Chr12:112508421
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr12:112946204
GRCh38:
Chr12:112508400
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr12:112944634
GRCh38:
Chr12:112506830
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
51.
GRCh37:
Chr12:112944280
GRCh38:
Chr12:112506476
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr12:112944278
GRCh38:
Chr12:112506474
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr12:112945775
GRCh38:
Chr12:112507971
PTPN11Noonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr12:112945212
GRCh38:
Chr12:112507408
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr12:112944398
GRCh38:
Chr12:112506594
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Apr 28, 2017)		criteria provided, single submitter
56.
GRCh37:
Chr12:112944269
GRCh38:
Chr12:112506465
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr12:112944070
GRCh38:
Chr12:112506266
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr12:112856625
GRCh38:
Chr12:112418821
PTPN11, RPL6LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr12:112944397
GRCh38:
Chr12:112506593
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr12:112944395
GRCh38:
Chr12:112506591
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr12:112856845
GRCh38:
Chr12:112419041
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr12:112856839
GRCh38:
Chr12:112419035
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr12:112856599
GRCh38:
Chr12:112418795
PTPN11, RPL6LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr12:112945746
GRCh38:
Chr12:112507942
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr12:112945692
GRCh38:
Chr12:112507888
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr12:112945116
GRCh38:
Chr12:112507312
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
67.
GRCh37:
Chr12:112947567
GRCh38:
Chr12:112509763
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr12:112946418
GRCh38:
Chr12:112508614
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr12:112945674
GRCh38:
Chr12:112507870
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr12:112945426
GRCh38:
Chr12:112507622
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr12:112945015
GRCh38:
Chr12:112507211
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr12:112944316
GRCh38:
Chr12:112506512
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr12:112943660
GRCh38:
Chr12:112505856
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Feb 16, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr12:112856765
GRCh38:
Chr12:112418961
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr12:112856755
GRCh38:
Chr12:112418951
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr12:112856740
GRCh38:
Chr12:112418936
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr12:112924325
GRCh38:
Chr12:112486521
PTPN11P423L, P428L, P424LNoonan syndrome 1Likely pathogenic
(Sep 26, 2019)		criteria provided, single submitter
78.
GRCh37:
Chr13:20763516
GRCh38:
Chr13:20189377
GJB2F69LNoonan syndrome 1Pathogeniccriteria provided, single submitter
79.
GRCh37:
Chr12:112910753-112910755
GRCh38:
Chr12:112472949-112472951
PTPN11Q257del, Q256delRASopathy, Noonan syndrome 1, Juvenile myelomonocytic leukemia,
Metachondromatosis, LEOPARD syndrome 1, not provided
Conflicting interpretations of pathogenicity
(Dec 13, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr2:39249914-39249916
GRCh38:
Chr2:39022773-39022775
SOS1R552del, R545delNoonan syndrome 1Likely pathogenic
(May 28, 2019)		criteria provided, single submitter
81.
GRCh37:
Chr7:140482929
GRCh38:
Chr7:140783129
BRAFCardiovascular phenotype, not provided, RASopathy,
Noonan syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7,
Cardiofaciocutaneous syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer,
Colorectal cancer		Likely benign
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:112892458
GRCh38:
Chr12:112454654
PTPN11Metachondromatosis, Noonan syndrome 1, Juvenile myelomonocytic leukemia,
LEOPARD syndrome 1, Cardiovascular phenotype, not provided,
RASopathy		Likely benign
(Dec 22, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:155880462
GRCh38:
Chr1:155910671
RIT1G31R, G48RNoonan syndrome 1Pathogeniccriteria provided, single submitter
84.
GRCh37:
Chr1:155874286
GRCh38:
Chr1:155904495
RIT1F46S, F82S, F99SNoonan syndrome 1Pathogeniccriteria provided, single submitter
85.
GRCh37:
Chr7:140482930
GRCh38:
Chr7:140783130
BRAFP402H, P314H, P350H, P368H, P405H, P442HRASopathy, not provided, Noonan syndrome and Noonan-related syndrome,
Hypertrophic cardiomyopathy, Cardiofaciocutaneous syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1,
Lung cancer, LEOPARD syndrome 3, Noonan syndrome 7,
Colorectal cancer, Noonan syndrome 1 ...see more		Uncertain significance
(May 19, 2022)		criteria provided, multiple submitters, no conflicts
86.
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
87.
GRCh37:
Chr22:21344753
GRCh38:
Chr22:20990464
LZTR1S244Pnot providedLikely pathogenic
(Sep 14, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr2:39241979
GRCh38:
Chr2:39014838
SOS1F623I, F616INoonan syndrome and Noonan-related syndromeLikely pathogenic
(Feb 28, 2019)		reviewed by expert panel
FDA Recognized Database
89.
GRCh37:
Chr12:112919929
GRCh38:
Chr12:112482125
PTPN11V382I, V381Inot provided, Cardiovascular phenotype, Noonan syndrome 1,
Juvenile myelomonocytic leukemia, Metachondromatosis, LEOPARD syndrome 1,
RASopathy		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:112924415
GRCh38:
Chr12:112486611
PTPN11P454L, P458L, P453Lnot provided, Metachondromatosis, Noonan syndrome 1,
LEOPARD syndrome 1		Uncertain significance
(May 15, 2022)		criteria provided, multiple submitters, no conflicts
91.
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
92.
GRCh37:
Chr1:155880484
GRCh38:
Chr1:155910693
RIT1K23N, K40Nnot provided, Noonan syndrome 8, Noonan syndrome 1
Pathogenic
(Nov 30, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr7:140476699
GRCh38:
Chr7:140776899
BRAFRASopathy, Colorectal cancer, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer, not provided
Likely benign
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
94.
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
95.
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
96.
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
97.
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
98.
GRCh37:
Chr12:9013788
GRCh38:
Chr12:8861192
A2ML1N1133H, N642HInborn genetic diseasesUncertain significance
(Jan 13, 2023)		criteria provided, single submitter
99.
GRCh37:
Chr12:112915475
GRCh38:
Chr12:112477671
PTPN11Juvenile myelomonocytic leukemia, LEOPARD syndrome 1, Metachondromatosis,
Noonan syndrome 1, Cardiovascular phenotype		Likely benign
(Dec 27, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:112891185
GRCh38:
Chr12:112453381
PTPN11Noonan syndrome 1, Juvenile myelomonocytic leukemia, LEOPARD syndrome 1,
Metachondromatosis, not specified, RASopathy
Likely benign
(May 14, 2022)		criteria provided, multiple submitters, no conflicts
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