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Links from MedGen

Items: 1 to 100 of 473

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:119170424
GRCh38:
Chr11:119299714
CBLI885TJuvenile myelomonocytic leukemia, CBL-related disorderUncertain significance
(Feb 15, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr11:119155686
GRCh38:
Chr11:119284976
CBLR480QCardiovascular phenotype, Juvenile myelomonocytic leukemiaConflicting interpretations of pathogenicity
(Mar 24, 2023)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr17:29654751
GRCh38:
Chr17:31327733
NF1Q1814K, Q1835KJuvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr17:29667674-29667675
GRCh38:
Chr17:31340656-31340657
NF1Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr17:29654499
GRCh38:
Chr17:31327481
NF1Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:29592371
GRCh38:
Chr17:31265353
NF1Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Likely benign
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:29482982
GRCh38:
Chr17:31155964
NF1Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, type 1
Likely benign
(Nov 30, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:29562918
GRCh38:
Chr17:31235900
NF1Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:29528417
GRCh38:
Chr17:31201399
NF1Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:29559913
GRCh38:
Chr17:31232895
NF1Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:29592370
GRCh38:
Chr17:31265352
NF1Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:29684403
GRCh38:
Chr17:31357385
NF1Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
Likely benign
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:29560242
GRCh38:
Chr17:31233224
NF1Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Likely benign
(Jun 12, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr17:29554218
GRCh38:
Chr17:31227200
NF1Neurofibromatosis-Noonan syndrome, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
Likely benign
(Oct 11, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:29576152
GRCh38:
Chr17:31249134
NF1Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal
Likely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
16.
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
17.
GRCh37:
Chr17:29422398
GRCh38:
Chr17:31095380
LOC111811965, MIR4733HG, NF1Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr17:29654498
GRCh38:
Chr17:31327480
NF1Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:29509510
GRCh38:
Chr17:31182492
NF1Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Likely benign
(Oct 13, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:29652874
GRCh38:
Chr17:31325856
NF1Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:29661844
GRCh38:
Chr17:31334826
NF1Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Likely benign
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:29679451
GRCh38:
Chr17:31352433
NF1Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
23.
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
24.
GRCh37:
Chr17:29508420
GRCh38:
Chr17:31181402
NF1Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:29665798
GRCh38:
Chr17:31338780
NF1K2279fs, K2300fsJuvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1		Pathogenic
(Sep 30, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:29548953
GRCh38:
Chr17:31221935
NF1M576TJuvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:29670077
GRCh38:
Chr17:31343059
NF1Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Uncertain significance
(Apr 28, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr17:29528197
GRCh38:
Chr17:31201179
NF1Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr17:29587393
GRCh38:
Chr17:31260375
NF1F1458L, F1479LNeurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:119169217
GRCh38:
Chr11:119298507
CBLG801CJuvenile myelomonocytic leukemia, CBL-related disorder, RASopathy
Uncertain significance
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
31.
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
32.
GRCh37:
Chr11:119170203-119170204
GRCh38:
Chr11:119299493-119299494
CBLCBL-related disorder, Juvenile myelomonocytic leukemia, RASopathy
Uncertain significance
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:29654838
GRCh38:
Chr17:31327820
NF1S1843C, S1864CNeurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Uncertain significance
(Oct 27, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:29670042
GRCh38:
Chr17:31343024
NF1F2339L, F2360LJuvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
35.
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
36.
GRCh37:
Chr17:29662066
GRCh38:
Chr17:31335048
NF1Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
37.
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
38.
GRCh37:
Chr11:119142573
GRCh38:
Chr11:119271863
CBLR191TCBL-related disorder, Juvenile myelomonocytic leukemia, RASopathy
Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
39.
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
40.
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
41.
GRCh37:
Chr11:119149274
GRCh38:
Chr11:119278564
CBLP428SCBL-related disorder, Juvenile myelomonocytic leukemia, RASopathy
Uncertain significance
(Oct 13, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr11:119148487
GRCh38:
Chr11:119277777
CBLR343QCBL-related disorder, Juvenile myelomonocytic leukemia, RASopathy
Uncertain significance
(Sep 14, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:29663338-29663340
GRCh38:
Chr17:31336320-31336322
NF1Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, type 1
Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:119155953
GRCh38:
Chr11:119285243
CBLR540*CBL-related disorder, Juvenile myelomonocytic leukemia, RASopathy,
CBL-related condition		Uncertain significance
(Jul 3, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:29592280
GRCh38:
Chr17:31265262
NF1Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Pathogenic/Likely pathogenic
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:29701156
GRCh38:
Chr17:31374138
NF1I2814V, I2835VNeurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1
Uncertain significance
(Apr 7, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:119155702
GRCh38:
Chr11:119284992
CBLF485LRASopathy, CBL-related disorder, Juvenile myelomonocytic leukemia
Conflicting interpretations of pathogenicity
(Sep 20, 2022)		criteria provided, conflicting interpretations
48.
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
49.
GRCh37:
Chr17:29652981-29652982
GRCh38:
Chr17:31325963-31325964
NF1K1661*, K1640*not provided, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis, type 1		Pathogenic/Likely pathogenic
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr17:29683591
GRCh38:
Chr17:31356573
NF1Y2577H, Y2556HNeurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, type 1
Uncertain significance
(Dec 27, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:119167677
GRCh38:
Chr11:119296967
CBLE696KRASopathy, Juvenile myelomonocytic leukemia, CBL-related disorder,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Dec 23, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr11:119170272
GRCh38:
Chr11:119299562
CBLE834DRASopathy, CBL-related disorder, Juvenile myelomonocytic leukemia
Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr17:29653080
GRCh38:
Chr17:31326062
NF1H1672R, H1693RNeurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, not provided
Uncertain significance
(Feb 17, 2023)		criteria provided, multiple submitters, no conflicts
54.
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
55.
GRCh37:
Chr12:112888313
GRCh38:
Chr12:112450509
PTPN11E109G, E110GPTPN11-related condition, Noonan syndrome 1, Metachondromatosis,
Juvenile myelomonocytic leukemia, LEOPARD syndrome 1, not specified
Conflicting interpretations of pathogenicity
(Feb 11, 2023)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr11:119149290
GRCh38:
Chr11:119278580
CBLP433Qnot specified, not provided, Juvenile myelomonocytic leukemia,
CBL-related disorder, RASopathy		Uncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:119149235
GRCh38:
Chr11:119278525
CBLG415SStroke, CBL-related disorder, Juvenile myelomonocytic leukemia
Uncertain significance
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:119149245
GRCh38:
Chr11:119278535
CBLF418SJuvenile myelomonocytic leukemia, not providedUncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:29665822
GRCh38:
Chr17:31338804
NF1K2286R, K2307RNeurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
not provided		Uncertain significance
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
60.
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
61.
GRCh37:
Chr11:119148943
GRCh38:
Chr11:119278233
CBLD388Gnot provided, Juvenile myelomonocytic leukemia, CBL-related disorder,
RASopathy		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:29665168
GRCh38:
Chr17:31338150
NF1Hereditary cancer-predisposing syndrome, not provided, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome,
Cardiovascular phenotype		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:112915466
GRCh38:
Chr12:112477662
PTPN11R288G, R289Gnot provided, RASopathy, Juvenile myelomonocytic leukemia,
Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Conflicting interpretations of pathogenicity
(Jul 3, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr17:29527429-29527434
GRCh38:
Chr17:31200411-31200416
NF1Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, not provided
Uncertain significance
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:29685481-29685482
GRCh38:
Chr17:31358463-31358464
NF1Neurofibromatosis, type 1, not provided, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1,
Juvenile myelomonocytic leukemia		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:29552274-29552276
GRCh38:
Chr17:31225256-31225258
NF1Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
Likely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:29663464
GRCh38:
Chr17:31336446
NF1Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1		Likely benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:29556327
GRCh38:
Chr17:31229309
NF1Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Juvenile myelomonocytic leukemia,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, Neurofibromatosis, type 1		Likely benign
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:29556219
GRCh38:
Chr17:31229201
NF1Neurofibromatosis, type 1, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Likely benign
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:29560151
GRCh38:
Chr17:31233133
NF1E1210*Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Pathogenic
(May 20, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:29588791
GRCh38:
Chr17:31261773
NF1G1526D, G1547DNeurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
Uncertain significance
(May 31, 2022)		criteria provided, multiple submitters, no conflicts
72.
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
73.
GRCh37:
Chr17:29587409
GRCh38:
Chr17:31260391
NF1D1464Y, D1485YNeurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
Uncertain significance
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:29554277
GRCh38:
Chr17:31227259
NF1R765CJuvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Hereditary cancer-predisposing syndrome,
Cardiovascular phenotype, Neurofibromatosis, type 1		Uncertain significance
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:119103248
GRCh38:
Chr11:119232538
CBLR96CRASopathy, not provided, Cardiovascular phenotype,
CBL-related disorder, Juvenile myelomonocytic leukemia		Uncertain significance
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:29665160
GRCh38:
Chr17:31338142
NF1Hereditary cancer-predisposing syndrome, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis
Likely pathogenic
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:29685177
GRCh38:
Chr17:31358159
NF1Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
Pathogenic/Likely pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:119155954
GRCh38:
Chr11:119285244
CBLR540QRASopathy, Juvenile myelomonocytic leukemia, CBL-related disorder
Uncertain significance
(Apr 3, 2022)		criteria provided, multiple submitters, no conflicts
79.
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
80.
GRCh37:
Chr11:119144651
GRCh38:
Chr11:119273941
CBLM222LCBL-related disorder, not specified, RASopathy,
Juvenile myelomonocytic leukemia		Uncertain significance
(Mar 21, 2023)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:119170289
GRCh38:
Chr11:119299579
CBLC840YJuvenile myelomonocytic leukemia, CBL-related disorder, RASopathy
Uncertain significance
(Nov 10, 2021)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:119149012
GRCh38:
Chr11:119278302
CBLJuvenile myelomonocytic leukemia, CBL-related disorder, RASopathy,
not provided		Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:119149345
GRCh38:
Chr11:119278635
CBLCBL-related disorder, CBL-related disorder, Juvenile myelomonocytic leukemia
Likely benign
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:29687701
GRCh38:
Chr17:31360683
NF1A2786V, A2765VNeurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
not provided		Uncertain significance
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:119156118
GRCh38:
Chr11:119285408
CBLI595Vnot specified, Cardiovascular phenotype, Juvenile myelomonocytic leukemia,
CBL-related disorder, not provided, RASopathy
Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:119169207-119169209
GRCh38:
Chr11:119298497-119298499
CBLS799delnot specified, Juvenile myelomonocytic leukemia, CBL-related disorder,
RASopathy, Stroke		Uncertain significance
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:29684020
GRCh38:
Chr17:31357002
NF1R2594L, R2573LHereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, Neurofibromatosis, type 1		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr17:29679340
GRCh38:
Chr17:31352322
NF1Y2508C, Y2487CHereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1		Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:29665789
GRCh38:
Chr17:31338771
NF1I2296T, I2275THereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1		Uncertain significance
(May 31, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:29664588
GRCh38:
Chr17:31337570
NF1L2210F, L2189FHereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal		Uncertain significance
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:29585427
GRCh38:
Chr17:31258409
NF1F1392L, F1413LHereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1		Uncertain significance
(Mar 15, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:29576102
GRCh38:
Chr17:31249084
NF1P1359THereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal		Uncertain significance
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:29576101
GRCh38:
Chr17:31249083
NF1Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal		Likely benign
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr17:29701059
GRCh38:
Chr17:31374041
NF1Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal		Likely benign
(Nov 1, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:29554265
GRCh38:
Chr17:31227247
NF1A761THereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1		Uncertain significance
(May 2, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:29541585
GRCh38:
Chr17:31214567
NF1Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1		Likely benign
(Jul 28, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr20:31022403-31022425
GRCh38:
Chr20:32434600-32434622
ASXL1E635fs, E574fsBohring-Opitz syndrome, not providedPathogenic
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:29553633-29553647
GRCh38:
Chr17:31226615-31226629
NF1V728fsJuvenile myelomonocytic leukemia, NeurofibromaLikely pathogenicno assertion criteria provided
99.
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
100.
GRCh37:
Chr17:29653046-29653047
GRCh38:
Chr17:31326028-31326029
NF1Neurofibromatosis, type 1, not provided, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis-Noonan syndrome, Cafe au lait spots, multiple, Tibial pseudarthrosis
Pathogenic/Likely pathogenic
(Nov 23, 2022)		criteria provided, multiple submitters, no conflicts
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