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Items: 1 to 100 of 188

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:112892454
GRCh38:
Chr12:112454650
PTPN11E203D, E204DRASopathy, LEOPARD syndrome 1, not provided
Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
GRCh37:
Chr12:112940026
GRCh38:
Chr12:112502222
PTPN11L560V, L559V, L564VLEOPARD syndrome 1Uncertain significance
(Jan 27, 2018)		criteria provided, single submitter
15.
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
16.
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
17.
GRCh37:
Chr12:112884157
GRCh38:
Chr12:112446353
PTPN11A31GLEOPARD syndrome 1Likely pathogenic
(Jun 26, 2019)		criteria provided, single submitter
18.
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
19.
GRCh37:
Chr12:112942525
GRCh38:
Chr12:112504721
PTPN11Y584C, Y579C, Y580CLEOPARD syndrome 1Uncertain significance
(Feb 6, 2020)		criteria provided, single submitter
20.
GRCh37:
Chr12:112893748
GRCh38:
Chr12:112455944
PTPN11RASopathy, LEOPARD syndrome 1Conflicting interpretations of pathogenicity
(Sep 17, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr12:112946225
GRCh38:
Chr12:112508421
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr12:112946204
GRCh38:
Chr12:112508400
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr12:112944634
GRCh38:
Chr12:112506830
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
24.
GRCh37:
Chr12:112944280
GRCh38:
Chr12:112506476
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr12:112944278
GRCh38:
Chr12:112506474
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr12:112945775
GRCh38:
Chr12:112507971
PTPN11Noonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr12:112945212
GRCh38:
Chr12:112507408
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr12:112944398
GRCh38:
Chr12:112506594
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Apr 28, 2017)		criteria provided, single submitter
29.
GRCh37:
Chr12:112944269
GRCh38:
Chr12:112506465
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr12:112944070
GRCh38:
Chr12:112506266
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr12:112856625
GRCh38:
Chr12:112418821
PTPN11, RPL6LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr12:112944397
GRCh38:
Chr12:112506593
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr12:112944395
GRCh38:
Chr12:112506591
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr12:112856845
GRCh38:
Chr12:112419041
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr12:112856839
GRCh38:
Chr12:112419035
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr12:112856599
GRCh38:
Chr12:112418795
PTPN11, RPL6LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr12:112945746
GRCh38:
Chr12:112507942
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr12:112945692
GRCh38:
Chr12:112507888
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr12:112945116
GRCh38:
Chr12:112507312
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
40.
GRCh37:
Chr12:112947567
GRCh38:
Chr12:112509763
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr12:112946418
GRCh38:
Chr12:112508614
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr12:112945674
GRCh38:
Chr12:112507870
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr12:112945426
GRCh38:
Chr12:112507622
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr12:112945015
GRCh38:
Chr12:112507211
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr12:112944316
GRCh38:
Chr12:112506512
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr12:112943660
GRCh38:
Chr12:112505856
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Feb 16, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr12:112856765
GRCh38:
Chr12:112418961
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr12:112856755
GRCh38:
Chr12:112418951
PTPN11Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr12:112856740
GRCh38:
Chr12:112418936
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
50.
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
51.
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
52.
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
53.
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
54.
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
55.
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
56.
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
57.
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
58.
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
59.
GRCh37:
Chr12:112915774
GRCh38:
Chr12:112477970
PTPN11RASopathy, Cardiovascular phenotype, Noonan syndrome 1,
Juvenile myelomonocytic leukemia, Metachondromatosis, LEOPARD syndrome 1,
not specified		Likely benign
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:112888311
GRCh38:
Chr12:112450507
PTPN11Cardiovascular phenotype, not specified, RASopathy,
Noonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis,
Juvenile myelomonocytic leukemia		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:112924439
GRCh38:
Chr12:112486635
PTPN11LEOPARD syndrome 1, Metachondromatosis, not provided,
Noonan syndrome 1		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:112891139
GRCh38:
Chr12:112453335
PTPN11G158A, G157AMetachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Aug 1, 2017)		criteria provided, single submitter
63.
GRCh37:
Chr12:112926983
GRCh38:
Chr12:112489179
PTPN11LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis,
Cardiovascular phenotype, RASopathy, not provided
Conflicting interpretations of pathogenicity
(Jan 23, 2023)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr12:112926959
GRCh38:
Chr12:112489155
PTPN11R527C, R531C, R526CCardiovascular phenotype, not specified, not provided,
RASopathy, Noonan syndrome 1, Metachondromatosis,
LEOPARD syndrome 1		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr12:112924315
GRCh38:
Chr12:112486511
PTPN11R421W, R425W, R420WCardiovascular phenotype, RASopathy, not provided,
Noonan syndrome 1, LEOPARD syndrome 1, Juvenile myelomonocytic leukemia,
Metachondromatosis		Uncertain significance
(May 26, 2023)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:112893748
GRCh38:
Chr12:112455943-112455944
PTPN11RASopathyLikely benign
(Apr 18, 2017)		reviewed by expert panel
FDA Recognized Database
67.
GRCh37:
Chr12:112920006
GRCh38:
Chr12:112482202
PTPN11RASopathyBenign
(Apr 18, 2017)		reviewed by expert panel
FDA Recognized Database
68.
GRCh37:
Chr12:112915532
GRCh38:
Chr12:112477728
PTPN11M311V, M310Vnot specified, Metachondromatosis, Juvenile myelomonocytic leukemia,
Noonan syndrome 1, LEOPARD syndrome 1, RASopathy,
Cardiovascular phenotype		Uncertain significance
(Aug 17, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:112947615
GRCh38:
Chr12:112509811
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr12:112947316
GRCh38:
Chr12:112509512
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr12:112946977
GRCh38:
Chr12:112509173
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr12:112946896
GRCh38:
Chr12:112509092
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr12:112946840
GRCh38:
Chr12:112509036
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr12:112946827
GRCh38:
Chr12:112509023
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr12:112946639
GRCh38:
Chr12:112508835
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr12:112946602
GRCh38:
Chr12:112508798
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr12:112946524
GRCh38:
Chr12:112508720
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr12:112946523
GRCh38:
Chr12:112508719
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign
(Jan 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr12:112946503
GRCh38:
Chr12:112508699
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr12:112946136
GRCh38:
Chr12:112508332
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr12:112946089
GRCh38:
Chr12:112508285
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr12:112945542
GRCh38:
Chr12:112507738
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr12:112945402
GRCh38:
Chr12:112507598
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr12:112945401
GRCh38:
Chr12:112507597
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr12:112945325
GRCh38:
Chr12:112507521
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr12:112945184
GRCh38:
Chr12:112507380
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr12:112945132
GRCh38:
Chr12:112507328
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr12:112945132
GRCh38:
Chr12:112507328
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr12:112944970
GRCh38:
Chr12:112507166
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign
(Jan 12, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr12:112944928
GRCh38:
Chr12:112507124
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr12:112944631
GRCh38:
Chr12:112506827
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr12:112944611
GRCh38:
Chr12:112506807
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr12:112944434
GRCh38:
Chr12:112506630
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr12:112944371
GRCh38:
Chr12:112506567
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr12:112944336
GRCh38:
Chr12:112506532
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr12:112944283
GRCh38:
Chr12:112506479
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr12:112944266
GRCh38:
Chr12:112506462
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign
(Jan 12, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr12:112943925
GRCh38:
Chr12:112506121
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr12:112943921
GRCh38:
Chr12:112506117
PTPN11not provided, Metachondromatosis, Noonan syndrome 1,
LEOPARD syndrome 1		Conflicting interpretations of pathogenicity
(Apr 1, 2023)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr12:112915678
GRCh38:
Chr12:112477874
PTPN11RASopathyBenign
(Apr 18, 2017)		reviewed by expert panel
FDA Recognized Database
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