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Links from MedGen

Items: 1 to 100 of 9944

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:29552157
GRCh38:
Chr17:31225139
NF1G631fsNeurofibromatosis, type 1Likely pathogenic
(Jul 1, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr17:29541549
GRCh38:
Chr17:31214531
NF1Y491*Neurofibromatosis, type 1Pathogenic
(Sep 12, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr17:29490370-29490373
GRCh38:
Chr17:31163352-31163355
NF1V153fsNeurofibromatosis, type 1Pathogenic
(Apr 26, 2023)
no assertion criteria provided
4.
GRCh37:
Chr17:29483090-29483091
GRCh38:
Chr17:31156072-31156073
NF1S52fsNeurofibromatosis, type 1Pathogenic
(Jul 13, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr17:29490341-29490342
GRCh38:
Chr17:31163323-31163324
NF1S144fsNeurofibromatosis, type 1Likely pathogenic
(Jul 21, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr17:29653061-29653062
GRCh38:
Chr17:31326043-31326044
NF1R1666fs, R1687fsNeurofibromatosis, type 1Likely pathogenic
(Jul 21, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr17:29652836
GRCh38:
Chr17:31325818
NF1Neurofibromatosis, type 1Likely pathogenic
(Jul 21, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr17:29663858
GRCh38:
Chr17:31336840
NF1R2098fs, R2119fsNeurofibromatosis, type 1Pathogenic
(Jul 21, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr17:29683983
GRCh38:
Chr17:31356965
NF1Q2561*, Q2582*Neurofibromatosis, type 1Likely pathogenic
(Jul 21, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr17:29654658
GRCh38:
Chr17:31327640
NF1A1783fs, A1804fsNeurofibromatosis, type 1Likely pathogenic
(Jul 18, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr17:29653048-29653049
GRCh38:
Chr17:31326030-31326031
NF1N1662fs, N1683fsNeurofibromatosis, type 1Pathogenic
(Jul 19, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr17:29587386
GRCh38:
Chr17:31260368
NF1Neurofibromatosis, type 1Pathogeniccriteria provided, single submitter
13.
GRCh37:
Chr17:29541560-29541561
GRCh38:
Chr17:31214542-31214543
NF1V497fsNeurofibromatosis, type 1Pathogenic
(Jul 13, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr17:29496940
GRCh38:
Chr17:31169922
NF1N171fsNeurofibromatosis, type 1Pathogenic
(Jul 13, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr17:29541533
GRCh38:
Chr17:31214515
NF1T486fsNeurofibromatosis, type 1Pathogeniccriteria provided, single submitter
16.
GRCh37:
Chr17:29541478
GRCh38:
Chr17:31214460
NF1F468fsNeurofibromatosis, type 1Pathogenic
(Jun 21, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr17:29670129
GRCh38:
Chr17:31343111
NF1A2368S, A2389SNeurofibromatosis, type 1Likely benigncriteria provided, single submitter
18.
GRCh37:
Chr17:29652910
GRCh38:
Chr17:31325892
NF1K1616fs, K1637fsNeurofibromatosis, type 1Likely pathogenic
(Apr 15, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr17:29490210
GRCh38:
Chr17:31163192
NF1K99QNeurofibromatosis, type 1Uncertain significance
(Apr 14, 2023)
criteria provided, single submitter
20.
GRCh37:
Chr17:29665115
GRCh38:
Chr17:31338097
NF1S2239fs, S2260fsNeurofibromatosis, type 1Pathogenic
(May 8, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr17:29554305-29554306
GRCh38:
Chr17:31227287-31227288
NF1E775*Neurofibromatosis, type 1Pathogeniccriteria provided, single submitter
22.
GRCh37:
Chr6:29589904
GRCh38:
Chr6:29622127
GABBR1A171P, A231P, A286P, A348PNeurofibromatosis, type 1Likely pathogenic
(May 15, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr17:29553550
GRCh38:
Chr17:31226532
NF1T700fsNeurofibromatosis, type 1Likely pathogenic
(Mar 23, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr17:29553517
GRCh38:
Chr17:31226499
NF1V689fsNeurofibromatosis, type 1Likely pathogenic
(Mar 7, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr17:29528509
GRCh38:
Chr17:31201491
NF1Neurofibromatosis, type 1Uncertain significance
(Jul 13, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr17:29528141-29528142
GRCh38:
Chr17:31201123-31201124
NF1R385fsNeurofibromatosis, type 1, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
Pathogenic
(Jun 21, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:29585412-29585413
GRCh38:
Chr17:31258394-31258395
NF1M1388fs, M1409fsNeurofibromatosis, type 1Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr17:29560198
GRCh38:
Chr17:31233180
NF1A1226fsNeurofibromatosis, type 1Likely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr17:29552218-29552234
GRCh38:
Chr17:31225200-31225216
NF1R652fsNeurofibromatosis, type 1Pathogenic
(Mar 17, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr17:29653204-29653205
GRCh38:
Chr17:31326186-31326187
NF1E1714fs, E1735fsNeurofibromatosis, type 1Pathogenicno assertion criteria provided
31.
GRCh37:
Chr17:29508469
GRCh38:
Chr17:31181451
NF1K206*Neurofibromatosis, type 1Pathogenicno assertion criteria provided
32.
NF1Neurofibromatosis, type 1Pathogenic
(Dec 10, 2022)
criteria provided, single submitter
33.
NF1Neurofibromatosis, type 1Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:29677251
GRCh38:
Chr17:31350233
NF1R2437*, R2458*Neurofibromatosis, type 1Pathogenic
(Feb 16, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr17:29475515-29542762
NF1Neurofibromatosis, type 1Pathogenic
(Aug 3, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:29422055-29701173
OMG, EVI2A, NF1, EVI2BNeurofibromatosis, type 1Uncertain significance
(Oct 31, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr17:29527428-29592367
NF1Neurofibromatosis, type 1Pathogenic
(Sep 14, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:29508420-29592377
NF1Neurofibromatosis, type 1Pathogenic
(Oct 28, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr17:29585352-29592367
NF1Neurofibromatosis, type 1Pathogenic
(Oct 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:29575982-29587553
NF1Neurofibromatosis, type 1Likely pathogenic
(Aug 31, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr17:29422055-29497035
NF1Neurofibromatosis, type 1Pathogenic
(Aug 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:29548858-29549489
NF1Neurofibromatosis, type 1Pathogenic
(Nov 25, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr17:29422055-29422407
NF1Neurofibromatosis, type 1Pathogenic
(Jul 9, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:29654575-29667842
NF1Neurofibromatosis, type 1Pathogenic
(Jun 14, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:29559879-29685283
EVI2A, EVI2B, OMG, NF1Neurofibromatosis, type 1Pathogenic
(Aug 30, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:29508426-29510472
NF1Neurofibromatosis, type 1Likely pathogenic
(Feb 20, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:29652818-29664918
NF1Neurofibromatosis, type 1Uncertain significance
(Sep 2, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr17:29585352-29670163
EVI2A, EVI2B, OMG, NF1Neurofibromatosis, type 1Likely pathogenic
(May 12, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:29585352-29588885
NF1Neurofibromatosis, type 1Likely pathogenic
(Jun 13, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:29575982-29662069
OMG, EVI2A, EVI2B, NF1Neurofibromatosis, type 1Likely pathogenic
(Aug 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:29556023-29563059
NF1Neurofibromatosis, type 1Likely pathogenic
(May 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:29475515-29490414
NF1Neurofibromatosis, type 1Likely pathogenic
(Dec 19, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr17:29541449-29557963
NF1Neurofibromatosis, type 1Likely pathogenic
(Jun 2, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:29422055-29552288
NF1Neurofibromatosis, type 1Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:29422055-29533409
NF1Neurofibromatosis, type 1Uncertain significance
(Mar 7, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:29540877-29542762
NF1Neurofibromatosis, type 1Uncertain significance
(May 4, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr17:29527420-29701173
NF1, EVI2B, EVI2A, OMGNeurofibromatosis, type 1Pathogenic
(Jan 3, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:29676118-29687741
NF1Neurofibromatosis, type 1Pathogenic
(May 24, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:29663341-29679442
NF1Neurofibromatosis, type 1Pathogenic
(Sep 17, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:29663341-29665833
NF1Neurofibromatosis, type 1Likely pathogenic
(Sep 9, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr17:29645324-29679452
EVI2A, NF1Neurofibromatosis, type 1Pathogenic
(Jun 6, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:29622027-29654877
OMG, NF1, EVI2B, EVI2ANeurofibromatosis, type 1Pathogenic
(Nov 25, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr17:29592237-29701173
NF1, OMG, EVI2A, EVI2BNeurofibromatosis, type 1Pathogenic
(Oct 7, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:29585352-29670163
NF1, EVI2B, OMG, EVI2ANeurofibromatosis, type 1Pathogenic
(Nov 8, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr17:29575982-29665843
EVI2A, EVI2B, OMG, NF1Neurofibromatosis, type 1Pathogenic
(Aug 21, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:29562619-29701173
EVI2B, OMG, EVI2A, NF1Neurofibromatosis, type 1Pathogenic
(Dec 25, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr17:29557258-29563059
NF1Neurofibromatosis, type 1Pathogenic
(May 23, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:29556833-29701173
EVI2A, EVI2B, OMG, NF1Neurofibromatosis, type 1Pathogenic
(Oct 19, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:29482981-29486131
NF1Neurofibromatosis, type 1Pathogenic
(Dec 20, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr17:29541449-29701173
EVI2B, EVI2A, NF1, OMGNeurofibromatosis, type 1Pathogenic
(Oct 29, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:29422328-29677356
NF1, EVI2A, EVI2B, OMGNeurofibromatosis, type 1Pathogenic
(Sep 12, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:29422055-29662069
EVI2B, OMG, EVI2A, NF1Neurofibromatosis, type 1Pathogenic
(Jun 9, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:27573882-29576157
Neurofibromatosis, type 1Pathogenic
(May 19, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:29422055-29533409
NF1Neurofibromatosis, type 1Pathogenic
(Oct 3, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:29527420-29527633
NF1Neurofibromatosis, type 1Pathogenic
(Aug 21, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr17:29486008-29486131
NF1Neurofibromatosis, type 1Pathogenic
(Oct 17, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr17:29557258
GRCh38:
Chr17:31230240
NF1Neurofibromatosis, type 1Likely benign
(Jul 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:29664392
GRCh38:
Chr17:31337374
NF1K2125fs, K2146fsNeurofibromatosis, type 1Pathogenic
(May 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:29554565
GRCh38:
Chr17:31227547
NF1W784GNeurofibromatosis, type 1Likely pathogenic
(Jul 19, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:29541517
GRCh38:
Chr17:31214499
NF1P481fsNeurofibromatosis, type 1Pathogenic
(Apr 11, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:29667529
GRCh38:
Chr17:31340511
NF1P2289A, P2310ANeurofibromatosis, type 1Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:29685566
GRCh38:
Chr17:31358548
NF1P2659L, P2680LNeurofibromatosis, type 1Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:29560224
GRCh38:
Chr17:31233206
NF1S1234FNeurofibromatosis, type 1Uncertain significance
(May 29, 2022)
criteria provided, single submitter
84.
GRCh38:
Chr17:31155962-31163396
LOC108281170, LOC108281180, NF1Neurofibromatosis, type 1Pathogenic
(Feb 3, 2023)
criteria provided, single submitter
85.
GRCh37:
Chr17:29546138-29546139
GRCh38:
Chr17:31219120-31219121
NF1Neurofibromatosis, type 1Likely pathogenic
(Feb 2, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr17:29661679
GRCh38:
Chr17:31334661
NF1Neurofibromatosis, type 1Likely pathogenic
(Feb 2, 2023)
criteria provided, single submitter
87.
GRCh37:
Chr17:29563002
GRCh38:
Chr17:31235984
NF1D1313HNeurofibromatosis, type 1Uncertain significance
(Jun 30, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:29653026
GRCh38:
Chr17:31326008
NF1S1654F, S1675FNeurofibromatosis, type 1Uncertain significance
(Oct 3, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:29652946
GRCh38:
Chr17:31325928
NF1Neurofibromatosis, type 1Likely benign
(Jul 29, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:29509535
GRCh38:
Chr17:31182517
NF1E247VNeurofibromatosis, type 1Uncertain significance
(May 31, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:29677354
GRCh38:
Chr17:31350336
NF1Neurofibromatosis, type 1Likely benign
(Jun 22, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:29559699
GRCh38:
Chr17:31232681
NF1Neurofibromatosis, type 1Likely benign
(Aug 21, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:29556386
GRCh38:
Chr17:31229368
NF1K918RNeurofibromatosis, type 1Uncertain significance
(Aug 28, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:29588720
GRCh38:
Chr17:31261702
NF1Neurofibromatosis, type 1Likely benign
(Mar 28, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:29588895
GRCh38:
Chr17:31261877
NF1Neurofibromatosis, type 1Likely benign
(Sep 28, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:29663787
GRCh38:
Chr17:31336769
NF1Neurofibromatosis, type 1Likely benign
(Jul 21, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:29533387
GRCh38:
Chr17:31206369
NF1P464SNeurofibromatosis, type 1Uncertain significance
(Jan 10, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:29670173
GRCh38:
Chr17:31343155
NF1Neurofibromatosis, type 1Likely benign
(Sep 18, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr17:29587371-29587372
GRCh38:
Chr17:31260353-31260354
NF1Neurofibromatosis, type 1Likely benign
(Apr 18, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:29556957
GRCh38:
Chr17:31229939
NF1Neurofibromatosis, type 1Likely benign
(Apr 26, 2022)
criteria provided, single submitter
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