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Items: 1 to 100 of 7944

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:27274843-30817038
GRCh38:
Chr17:28947825-32490020
See casesPathogenic
(Dec 10, 2012)
no assertion criteria providedVCV000154960
2.
GRCh37:
Chr17:28952286-30386515
GRCh38:
Chr17:30625268-32059496
See casesPathogenic
(Aug 26, 2013)
no assertion criteria providedVCV000153736
3.
GRCh37:
Chr17:28957752-30415399
GRCh38:
Chr17:30630734-32088380
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058136
4.
GRCh37:
Chr17:28993036-30412788
GRCh38:
Chr17:30666018-32085769
See casesPathogenic
(Aug 1, 2014)
no assertion criteria providedVCV000153222
5.
GRCh37:
Chr17:28994990-30350877
GRCh38:
Chr17:30667972-32023858
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058139
6.
GRCh37:
Chr17:28999834-30326958
GRCh38:
Chr17:30672816-31999939
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060460
7.
GRCh37:
Chr17:29004621-30398720
GRCh38:
Chr17:30677603-32071701
See casesUncertain significance
(Feb 14, 2018)
no assertion criteria providedVCV000153915
8.
GRCh37:
Chr17:29005171-30400885
GRCh38:
Chr17:30678153-32073866
See casesPathogenic
(Mar 11, 2013)
no assertion criteria providedVCV000155211
9.
GRCh37:
Chr17:29011937-30348421
GRCh38:
Chr17:30684919-32021402
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151510
10.
GRCh37:
Chr17:29033863-30326952
GRCh38:
Chr17:30706845-31999933
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150276
11.
GRCh37:
Chr17:29033881-30321643
GRCh38:
Chr17:30706863-31994624
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060461
12.
GRCh37:
Chr17:29033882-30326958
GRCh38:
Chr17:30706864-31999939
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160878
13.
GRCh37:
Chr17:29033882-30426780
GRCh38:
Chr17:30706864-32099761
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057031
14.
GRCh37:
Chr17:29033882-30326958
GRCh38:
Chr17:30706864-31999939
See casesUncertain significance
(Feb 14, 2018)
no assertion criteria providedVCV000034989
15.
GRCh37:
Chr17:29094212-30264505
GRCh38:
Chr17:30767194-31937486
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060462
16.
GRCh37:
Chr17:29158338-29649192
GRCh38:
Chr17:30831320-31322174
See casesUncertain significance
(Mar 10, 2014)
no assertion criteria providedVCV000154090
17.
GRCh37:
Chr17:29421945-29509683
GRCh38:
Chr17:31094927-31182665
NF1, LOC108281169, LOC108281170, LOC108281180, LOC111811965Neurofibromatosis, type 1Uncertain significance
(Oct 1, 2016)
criteria provided, single submitterVCV000417338
18.
GRCh37:
Chr17:29421945-29509683
GRCh38:
Chr17:31094927-31182665
NF1, LOC108281169, LOC108281170, LOC108281180, LOC111811965Neurofibromatosis, type 1Pathogenic
(Dec 16, 2016)
criteria provided, single submitterVCV000417336
19.
GRCh37:
Chr17:29421945-29422387
GRCh38:
Chr17:31094927-31095369
NF1, LOC111811965Neurofibromatosis, type 1Pathogenic
(Jan 3, 2017)
criteria provided, single submitterVCV000417332
20.
GRCh37:
Chr17:29421945-29422387
GRCh38:
Chr17:31094927-31095369
NF1, LOC111811965Neurofibromatosis, type 1Uncertain significance
(Jan 10, 2017)
criteria provided, single submitterVCV000254085
21.
GRCh37:
Chr17:29421945-29704695
GRCh38:
Chr17:31094927-31377677
EVI2A, EVI2B, NF1, OMG, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965Neurofibromatosis, type 1Pathogenic
(Nov 27, 2019)
criteria provided, single submitterVCV000237507
22.
GRCh37:
Chr17:29421965
GRCh38:
Chr17:31094947
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000890653
23.
GRCh37:
Chr17:29422006
GRCh38:
Chr17:31094988
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322553
24.
GRCh37:
Chr17:29422056
GRCh38:
Chr17:31095038
NF1, LOC111811965not provided, Neurofibromatosis, type 1Likely pathogenic
(Jul 26, 2020)
criteria provided, multiple submitters, no conflictsVCV001013130
25.
GRCh37:
Chr17:29422063
GRCh38:
Chr17:31095045
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000891891
26.
GRCh37:
Chr17:29422076-29422077
GRCh38:
Chr17:31095058-31095059
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000322555
27.
GRCh37:
Chr17:29422076-29422077
GRCh38:
Chr17:31095058-31095059
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000322554
28.
GRCh37:
Chr17:29422077
GRCh38:
Chr17:31095059
NF1, LOC111811965Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000891892
29.
GRCh37:
Chr17:29422082-29422083
GRCh38:
Chr17:31095064-31095065
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000322556
30.
GRCh37:
Chr17:29422087-29422088
GRCh38:
Chr17:31095069-31095070
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000322557
31.
GRCh37:
Chr17:29422091
GRCh38:
Chr17:31095073
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322558
32.
GRCh37:
Chr17:29422099
GRCh38:
Chr17:31095081
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322559
33.
GRCh37:
Chr17:29422119
GRCh38:
Chr17:31095101
LOC111811965, NF1Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322560
34.
GRCh37:
Chr17:29422155
GRCh38:
Chr17:31095137
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322561
35.
GRCh37:
Chr17:29422162
GRCh38:
Chr17:31095144
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890701
36.
GRCh37:
Chr17:29422180
GRCh38:
Chr17:31095162
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322562
37.
GRCh37:
Chr17:29422213
GRCh38:
Chr17:31095195
NF1, LOC111811965Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322563
38.
GRCh37:
Chr17:29422244
GRCh38:
Chr17:31095226
NF1, LOC111811965Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, type 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000322564
39.
GRCh37:
Chr17:29422255
GRCh38:
Chr17:31095237
NF1, LOC111811965Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000322565
40.
GRCh37:
Chr17:29422277
GRCh38:
Chr17:31095259
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000889509
41.
GRCh37:
Chr17:29422278-29701241
GRCh38:
Chr17:31095260-31374223
EVI2A, EVI2B, NF1, OMG, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965Neurofibromatosis, type 1Pathogenic
(Feb 6, 2018)
criteria provided, single submitterVCV000506282
42.
GRCh37:
Chr17:29422306
GRCh38:
Chr17:31095288
NF1, LOC111811965Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
not specified, Neurofibromatosis, type 1, not provided
Benign/Likely benign
(Apr 29, 2019)
criteria provided, multiple submitters, no conflictsVCV000257274
43.
GRCh37:
Chr17:29422318-29422397
GRCh38:
Chr17:31095300-31095379
NF1, LOC111811965Neurofibromatosis, type 1Pathogenic
(Dec 18, 2018)
criteria provided, single submitterVCV000583860
44.
GRCh37:
Chr17:29422318-29422397
GRCh38:
Chr17:31095300-31095379
NF1, LOC111811965Neurofibromatosis, type 1Uncertain significance
(Jun 13, 2019)
criteria provided, single submitterVCV000583778
45.
GRCh37:
Chr17:29422318-29701183
GRCh38:
Chr17:31095300-31374165
EVI2A, EVI2B, NF1, OMG, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965Neurofibromatosis, type 1Uncertain significance
(Jul 9, 2019)
criteria provided, single submitterVCV000583654
46.
GRCh37:
Chr17:29422318-29701183
GRCh38:
Chr17:31095300-31374165
EVI2A, EVI2B, NF1, OMG, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965Neurofibromatosis, type 1Pathogenic
(Jul 16, 2019)
criteria provided, single submitterVCV000583583
47.
GRCh37:
Chr17:29422320
GRCh38:
Chr17:31095302
LOC111811965, NF1Neurofibromatosis, type 1Uncertain significance
(Aug 26, 2015)
criteria provided, single submitterVCV000219977
48.
GRCh37:
Chr17:29422322-29701179
GRCh38:
Chr17:31095304-31374161
EVI2A, EVI2B, NF1, OMG, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965Neurofibromatosis, type 1Pathogenic
(Nov 6, 2019)
criteria provided, single submitterVCV000832212
49.
GRCh37:
Chr17:29422322-29701179
GRCh38:
Chr17:31095304-31374161
LOC111811965, OMG, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, EVI2A, EVI2B, NF1Neurofibromatosis, type 1Uncertain significance
(Sep 19, 2017)
criteria provided, single submitterVCV000527682
50.
GRCh37:
Chr17:29422322-29483150
GRCh38:
Chr17:31095304-31156132
NF1, LOC108281169, LOC111811965Neurofibromatosis, type 1Pathogenic
(Oct 10, 2017)
criteria provided, single submitterVCV000457497
51.
GRCh37:
Chr17:29422326
GRCh38:
Chr17:31095308
NF1, LOC111811965Hereditary cancer-predisposing syndromeUncertain significance
(Oct 8, 2018)
criteria provided, single submitterVCV000822503
52.
GRCh37:
Chr17:29422326
GRCh38:
Chr17:31095308
NF1, LOC111811965Hereditary cancer-predisposing syndromeUncertain significance
(May 8, 2015)
criteria provided, single submitterVCV000231758
53.
GRCh37:
Chr17:29422328
GRCh38:
Chr17:31095310
NF1, LOC111811965M1LNeurofibromatosis, type 1Likely pathogeniccriteria provided, single submitterVCV000694505
54.
GRCh37:
Chr17:29422328
GRCh38:
Chr17:31095310
LOC111811965, NF1M1VNeurofibromatosis, type 1, not providedPathogenic
(Jun 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000404429
55.
GRCh37:
Chr17:29422329
GRCh38:
Chr17:31095311
NF1, LOC111811965M1KNeurofibromatosis, type 1, not providedLikely pathogenic
(Dec 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000547562
56.
GRCh37:
Chr17:29422329
GRCh38:
Chr17:31095311
NF1, LOC111811965M1Rnot provided, Neurofibromatosis, type 1Pathogenic
(Aug 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000426634
57.
GRCh37:
Chr17:29422329
GRCh38:
Chr17:31095311
NF1, LOC111811965M1Tnot provided, Hereditary cancer-predisposing syndromePathogenic
(Mar 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000280054
58.
GRCh37:
Chr17:29422330
GRCh38:
Chr17:31095312
NF1, LOC111811965M1IHereditary cancer-predisposing syndromePathogenic
(Feb 14, 2019)
criteria provided, single submitterVCV000824485
59.
GRCh37:
Chr17:29422330
GRCh38:
Chr17:31095312
NF1, LOC111811965M1INeurofibromatosis, type 1Likely pathogenic
(Aug 15, 2018)
criteria provided, single submitterVCV000647845
60.
GRCh37:
Chr17:29422331-29422332
GRCh38:
Chr17:31095313-31095314
NF1, LOC111811965A2FHereditary cancer-predisposing syndrome, Neurofibromatosis, type 1Uncertain significance
(Jul 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000480205
61.
GRCh37:
Chr17:29422332
GRCh38:
Chr17:31095314
NF1, LOC111811965A3fsNeurofibromatosis, type 1Pathogenic
(Oct 11, 2020)
criteria provided, single submitterVCV001068537
62.
GRCh37:
Chr17:29422332
GRCh38:
Chr17:31095314
NF1, LOC111811965A2VHereditary cancer-predisposing syndromeUncertain significance
(Jan 12, 2016)
criteria provided, single submitterVCV000480069
63.
GRCh37:
Chr17:29422333
GRCh38:
Chr17:31095315
NF1, LOC111811965Neurofibromatosis, type 1Likely benign
(Nov 13, 2019)
criteria provided, single submitterVCV001141694
64.
GRCh37:
Chr17:29422333
GRCh38:
Chr17:31095315
NF1, LOC111811965Neurofibromatosis, type 1, not provided, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000233007
65.
GRCh37:
Chr17:29422334
GRCh38:
Chr17:31095316
NF1, LOC111811965A3TNeurofibromatosis, type 1Uncertain significance
(Dec 14, 2018)
criteria provided, single submitterVCV000658636
66.
GRCh37:
Chr17:29422335
GRCh38:
Chr17:31095317
NF1, LOC111811965A3GNeurofibromatosis, type 1Uncertain significance
(Dec 31, 2017)
criteria provided, single submitterVCV001037115
67.
GRCh37:
Chr17:29422335
GRCh38:
Chr17:31095317
NF1, LOC111811965A3VNeurofibromatosis, type 1Uncertain significance
(Aug 4, 2020)
criteria provided, single submitterVCV000951161
68.
GRCh37:
Chr17:29422336
GRCh38:
Chr17:31095318
NF1, LOC111811965H4fsNeurofibromatosis, type 1Pathogenic
(Feb 27, 2020)
criteria provided, single submitterVCV001072626
69.
GRCh37:
Chr17:29422337
GRCh38:
Chr17:31095319
NF1, LOC111811965H4NNeurofibromatosis, type 1Uncertain significance
(Nov 27, 2019)
criteria provided, single submitterVCV000851752
70.
GRCh37:
Chr17:29422340
GRCh38:
Chr17:31095322
NF1, LOC111811965R5WHereditary cancer-predisposing syndromeUncertain significance
(Sep 4, 2019)
criteria provided, single submitterVCV000819120
71.
GRCh37:
Chr17:29422341
GRCh38:
Chr17:31095323
NF1, LOC111811965R5fsNeurofibromatosis, type 1Pathogenic
(Jan 15, 2020)
criteria provided, single submitterVCV000369956
72.
GRCh37:
Chr17:29422342
GRCh38:
Chr17:31095324
NF1, LOC111811965R5SNeurofibromatosis, type 1Uncertain significance
(Mar 5, 2018)
criteria provided, single submitterVCV000578123
73.
GRCh37:
Chr17:29422343
GRCh38:
Chr17:31095325
NF1, LOC111811965P6Snot providedUncertain significance
(Apr 18, 2018)
criteria provided, single submitterVCV000618757
74.
GRCh37:
Chr17:29422344
GRCh38:
Chr17:31095326
NF1, LOC111811965P6LNeurofibromatosis, type 1, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000219691
75.
GRCh37:
Chr17:29422346
GRCh38:
Chr17:31095328
NF1, LOC111811965V7MNeurofibromatosis, type 1Uncertain significance
(Jun 10, 2019)
criteria provided, single submitterVCV000847843
76.
GRCh37:
Chr17:29422353
GRCh38:
Chr17:31095335
NF1, LOC111811965W9LNeurofibromatosis, type 1Uncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV001034566
77.
GRCh37:
Chr17:29422353
GRCh38:
Chr17:31095335
NF1, LOC111811965W9*Neurofibromatosis, type 1Pathogenic
(Apr 18, 2018)
criteria provided, single submitterVCV000567193
78.
GRCh37:
Chr17:29422357
GRCh38:
Chr17:31095339
NF1, LOC111811965Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1Likely benign
(Nov 14, 2019)
criteria provided, multiple submitters, no conflictsVCV000759525
79.
GRCh37:
Chr17:29422358
GRCh38:
Chr17:31095340
LOC111811965, NF1Q11*not provided, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1
Pathogenic/Likely pathogenic
(Oct 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000230597
80.
GRCh37:
Chr17:29422362
GRCh38:
Chr17:31095344
NF1, LOC111811965A12VNeurofibromatosis, type 1Uncertain significance
(Aug 19, 2020)
criteria provided, single submitterVCV000935275
81.
GRCh37:
Chr17:29422363
GRCh38:
Chr17:31095345
NF1, LOC111811965Neurofibromatosis, type 1Likely benign
(Mar 28, 2020)
criteria provided, single submitterVCV001139725
82.
GRCh37:
Chr17:29422363
GRCh38:
Chr17:31095345
NF1, LOC111811965Neurofibromatosis, type 1Likely benign
(Nov 2, 2017)
criteria provided, single submitterVCV000527624
83.
GRCh37:
Chr17:29422363
GRCh38:
Chr17:31095345
NF1, LOC111811965Neurofibromatosis, type 1, Hereditary cancer-predisposing syndromeLikely benign
(May 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000187615
84.
GRCh37:
Chr17:29422364
GRCh38:
Chr17:31095346
LOC111811965, NF1V13LHereditary cancer-predisposing syndromeUncertain significance
(Feb 22, 2019)
criteria provided, single submitterVCV000824236
85.
GRCh37:
Chr17:29422364
GRCh38:
Chr17:31095346
NF1, LOC111811965V13MNeurofibromatosis, type 1Uncertain significance
(Dec 29, 2016)
criteria provided, single submitterVCV000404442
86.
GRCh37:
Chr17:29422365
GRCh38:
Chr17:31095347
NF1, LOC111811965V13ANeurofibromatosis, type 1Uncertain significance
(Oct 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000835685
87.
GRCh37:
Chr17:29422371
GRCh38:
Chr17:31095353
NF1, LOC111811965S15NHereditary cancer-predisposing syndrome, Neurofibromatosis, type 1Uncertain significance
(May 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000659045
88.
GRCh37:
Chr17:29422373
GRCh38:
Chr17:31095355
NF1, LOC111811965R16CNeurofibromatosis, type 1, Hereditary cancer-predisposing syndrome, not provided
Uncertain significance
(Nov 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000378270
89.
GRCh37:
Chr17:29422374
GRCh38:
Chr17:31095356
NF1, LOC111811965R16PHereditary cancer-predisposing syndrome, Neurofibromatosis, type 1Uncertain significance
(Oct 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000481953
90.
GRCh37:
Chr17:29422375
GRCh38:
Chr17:31095357
NF1, LOC111811965Neurofibromatosis, type 1Likely benign
(Jul 8, 2020)
criteria provided, single submitterVCV000457731
91.
GRCh37:
Chr17:29422377
GRCh38:
Chr17:31095359
NF1, LOC111811965F17CNeurofibromatosis, type 1Uncertain significance
(Sep 11, 2020)
criteria provided, single submitterVCV001026095
92.
GRCh37:
Chr17:29422378
GRCh38:
Chr17:31095360
NF1, LOC111811965F17LNeurofibromatosis, type 1Uncertain significance
(Dec 1, 2018)
criteria provided, single submitterVCV000651327
93.
GRCh37:
Chr17:29422382-29422383
GRCh38:
Chr17:31095364-31095365
NF1, LOC111811965Neurofibromatosis, type 1Uncertain significance
(Sep 21, 2019)
criteria provided, single submitterVCV000939095
94.
GRCh37:
Chr17:29422382
GRCh38:
Chr17:31095364
NF1, LOC111811965E19KNeurofibromatosis, type 1Uncertain significance
(Jul 30, 2019)
criteria provided, single submitterVCV000582267
95.
GRCh37:
Chr17:29422382
GRCh38:
Chr17:31095364
NF1, LOC111811965E19*Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1Pathogenic
(Dec 19, 2019)
criteria provided, multiple submitters, no conflictsVCV000186896
96.
GRCh37:
Chr17:29422383
GRCh38:
Chr17:31095365
NF1, LOC111811965E19ANeurofibromatosis, type 1Uncertain significance
(Jun 21, 2018)
criteria provided, single submitterVCV001038222
97.
GRCh37:
Chr17:29422385
GRCh38:
Chr17:31095367
NF1Q20ENeurofibromatosis, type 1Uncertain significance
(Nov 8, 2019)
criteria provided, single submitterVCV000955226
98.
GRCh37:
Chr17:29422385
GRCh38:
Chr17:31095367
NF1Q20*Neurofibromatosis, type 1Pathogenic/Likely pathogenic
(Oct 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000576465
99.
GRCh37:
Chr17:29422386-29422391
GRCh38:
Chr17:31095368-31095373
NF1Neurofibromatosis, type 1Likely pathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001066935
100.
GRCh37:
Chr17:29422386
GRCh38:
Chr17:31095368
NF1Q20RNeurofibromatosis, type 1Uncertain significance
(May 23, 2020)
criteria provided, single submitterVCV001062479
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