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Links from MedGen

Items: 1 to 100 of 1655

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:108201014
GRCh38:
Chr11:108330287
ATM, C11orf65R2461SMultiple endocrine neoplasia, type 1Uncertain significance
(Jun 10, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr1:193091400
GRCh38:
Chr1:193122270
CDC73E24*Multiple endocrine neoplasia, type 1Likely pathogenic
(Jun 6, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr11:64577154
GRCh38:
Chr11:64809682
MEN1L143RMultiple endocrine neoplasia, type 1Likely pathogenic
(May 10, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr11:64577445
GRCh38:
Chr11:64809973
MEN1H46LMultiple endocrine neoplasia, type 1Likely pathogenic
(Apr 10, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr11:64572626
GRCh38:
Chr11:64805154
MEN1F375fs, F410fs, F415fs, F417fs, F452fs, F457fsMultiple endocrine neoplasia, type 1Likely pathogenic
(Apr 10, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr11:64572512
GRCh38:
Chr11:64805040
MEN1E413D, E448D, E453D, E455D, E490D, E495DMultiple endocrine neoplasia, type 1Uncertain significance
(Feb 11, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr11:64575120-64576450
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Sep 13, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:64577559-64578852
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Sep 16, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr11:64573097-64575581
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Dec 31, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr11:64573811
GRCh38:
Chr11:64806339
MEN1Multiple endocrine neoplasia, type 1Likely benign
(May 14, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:64573730
GRCh38:
Chr11:64806258
MEN1W306C, W341C, W346CMultiple endocrine neoplasia, type 1Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:64577155
GRCh38:
Chr11:64809683
MEN1L143VMultiple endocrine neoplasia, type 1Uncertain significance
(Sep 14, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:64574524
GRCh38:
Chr11:64807052
MEN1P256S, P291S, P296SMultiple endocrine neoplasia, type 1Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:64572261
GRCh38:
Chr11:64804789
MEN1R405G, R425G, R460G, R465G, R467G, R502G, R507GMultiple endocrine neoplasia, type 1Uncertain significance
(Aug 4, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:64575519
GRCh38:
Chr11:64808047
MEN1Q166H, Q171HMultiple endocrine neoplasia, type 1Uncertain significance
(Mar 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:64577344
GRCh38:
Chr11:64809872
MEN1V80MMultiple endocrine neoplasia, type 1Uncertain significance
(Apr 10, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:64574463
GRCh38:
Chr11:64806991
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Mar 1, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:64577437
GRCh38:
Chr11:64809965
MEN1A49SMultiple endocrine neoplasia, type 1Uncertain significance
(Sep 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:64577565
GRCh38:
Chr11:64810093
MEN1A6VMultiple endocrine neoplasia, type 1Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:64577250
GRCh38:
Chr11:64809778
MEN1G111DMultiple endocrine neoplasia, type 1Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:64577250
GRCh38:
Chr11:64809778
MEN1G111fsMultiple endocrine neoplasia, type 1Pathogenic
(Aug 20, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:64575154
GRCh38:
Chr11:64807682
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Aug 30, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:64577162
GRCh38:
Chr11:64809690
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Jul 30, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:64572243
GRCh38:
Chr11:64804771
MEN1E411Q, E473Q, E471Q, E508Q, E431Q, E513Q, E466QMultiple endocrine neoplasia, type 1Uncertain significance
(Jan 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:64572686
GRCh38:
Chr11:64805214
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Oct 17, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:64573692
GRCh38:
Chr11:64806220
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Jun 26, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:64574633
GRCh38:
Chr11:64807161
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Jun 13, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:64572601
GRCh38:
Chr11:64805129
MEN1G424S, G426S, G461S, G466S, G384S, G419Snot provided, Multiple endocrine neoplasia, type 1, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 18, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:64577165
GRCh38:
Chr11:64809693
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Apr 13, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:64572198
GRCh38:
Chr11:64804726
MEN1R481W, R523W, R446W, R486W, R488W, R426W, R528WHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1Uncertain significance
(Sep 13, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:64573687
GRCh38:
Chr11:64806215
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Sep 6, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:64577580
GRCh38:
Chr11:64810108
MEN1M1KMultiple endocrine neoplasia, type 1Pathogenic
(Jan 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:64577449
GRCh38:
Chr11:64809977
MEN1E45QMultiple endocrine neoplasia, type 1Pathogenic
(Jul 14, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:64577296
GRCh38:
Chr11:64809824
MEN1Q96*Multiple endocrine neoplasia, type 1Pathogenic
(Feb 20, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:64577261-64577262
GRCh38:
Chr11:64809789-64809790
MEN1R108fsMultiple endocrine neoplasia, type 1Pathogenic/Likely pathogenic
(Mar 10, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr11:64577166
GRCh38:
Chr11:64809694
MEN1H139PMultiple endocrine neoplasia, type 1Likely pathogenic
(Aug 9, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:64575553
GRCh38:
Chr11:64808081
MEN1S160F, S155FMultiple endocrine neoplasia, type 1Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:64575468
GRCh38:
Chr11:64807996
MEN1W188*, W183*Multiple endocrine neoplasia, type 1Pathogenic
(Oct 31, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:64575443
GRCh38:
Chr11:64807971
MEN1Q192*, Q197*Multiple endocrine neoplasia, type 1Pathogenic
(Jun 30, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:64574516
GRCh38:
Chr11:64807044
MEN1G259fs, G299fs, G294fsMultiple endocrine neoplasia, type 1Pathogenic
(Jul 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:64572625
GRCh38:
Chr11:64805153
MEN1A376P, A411P, A416P, A418P, A453P, A458PMultiple endocrine neoplasia, type 1Likely pathogenic
(Sep 2, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:64572243-64572246
GRCh38:
Chr11:64804771-64804774
MEN1A470fs, A507fs, A465fs, A430fsMultiple endocrine neoplasia, type 1Pathogenic
(Aug 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:64571907
GRCh38:
Chr11:64804435
MEN1Q523*, Q578*, Q585*, Q620*, Q543*, Q583*, Q625*Multiple endocrine neoplasia, type 1Likely pathogenic
(Aug 7, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:64573691
GRCh38:
Chr11:64806219
MEN1Multiple endocrine neoplasia, type 1Likely benign
(May 8, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:64571827
GRCh38:
Chr11:64804355
MEN1K604N, K646N, K651N, K549N, K569N, K609N, K611NMultiple endocrine neoplasia, type 1Uncertain significance
(May 6, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:64575520
GRCh38:
Chr11:64808048
MEN1Q166P, Q171PMultiple endocrine neoplasia, type 1Uncertain significance
(May 5, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:64574526
GRCh38:
Chr11:64807054
MEN1E295G, E290G, E255GMultiple endocrine neoplasia, type 1Uncertain significance
(May 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:64577438-64577439
GRCh38:
Chr11:64809966-64809967
MEN1A49fsMultiple endocrine neoplasia, type 1Pathogenic
(May 24, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:64574556
GRCh38:
Chr11:64807084
MEN1L245*, L280*, L285*Multiple endocrine neoplasia, type 1Pathogenic
(Apr 17, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:64577479
GRCh38:
Chr11:64810007
MEN1V35LMultiple endocrine neoplasia, type 1Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:64577553
GRCh38:
Chr11:64810081
MEN1L10PMultiple endocrine neoplasia, type 1Uncertain significance
(Apr 13, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:64575518
GRCh38:
Chr11:64808046
MEN1A167T, A172TMultiple endocrine neoplasia, type 1Uncertain significance
(Apr 13, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:64575349
GRCh38:
Chr11:64807877
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Apr 12, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:64574570
GRCh38:
Chr11:64807098
MEN1Multiple endocrine neoplasia, type 1Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:64572248
GRCh38:
Chr11:64804776
MEN1A409E, A469E, A511E, A429E, A471E, A464E, A506EMultiple endocrine neoplasia, type 1, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 24, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:64573852
GRCh38:
Chr11:64806380
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Apr 2, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:64573094
GRCh38:
Chr11:64805622
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Aug 31, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:64574580
GRCh38:
Chr11:64807108
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Mar 29, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:64575588
GRCh38:
Chr11:64808116
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Sep 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:64571981
GRCh38:
Chr11:64804509
MEN1F498Y, F518Y, F553Y, F558Y, F560Y, F595Y, F600YMultiple endocrine neoplasia, type 1Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:64574709
GRCh38:
Chr11:64807237
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Mar 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:64572106
GRCh38:
Chr11:64804634
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Mar 20, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:64574533
GRCh38:
Chr11:64807061
MEN1E293*, E253*, E288*Multiple endocrine neoplasia, type 1Pathogenic
(Mar 19, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:64574558
GRCh38:
Chr11:64807086
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Mar 19, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:64571859
GRCh38:
Chr11:64804387
MEN1T594P, T599P, T539P, T601P, T636P, T641P, T559PMultiple endocrine neoplasia, type 1Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:64574501
GRCh38:
Chr11:64807029
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Mar 26, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:64572623
GRCh38:
Chr11:64805151
MEN1Multiple endocrine neoplasia, type 1, Hereditary cancer-predisposing syndromeLikely benign
(May 4, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:64572622
GRCh38:
Chr11:64805150
MEN1H417fs, H454fs, H412fs, H377fsMultiple endocrine neoplasia, type 1Pathogenic
(May 21, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:64577341
GRCh38:
Chr11:64809869
MEN1A81fsMultiple endocrine neoplasia, type 1Pathogenic
(Mar 6, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:64577483
GRCh38:
Chr11:64810011
MEN1D33EMultiple endocrine neoplasia, type 1Uncertain significance
(Mar 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:64572286
GRCh38:
Chr11:64804814
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Feb 24, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:64577540-64577541
GRCh38:
Chr11:64810068-64810069
MEN1R14fsMultiple endocrine neoplasia, type 1Pathogenic
(Jul 9, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:64571883
GRCh38:
Chr11:64804411
MEN1Q531*, Q586*, Q591*, Q628*, Q551*, Q593*, Q633*Multiple endocrine neoplasia, type 1Likely pathogenic
(Feb 9, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:64577174-64577175
GRCh38:
Chr11:64809702-64809703
MEN1D136fsMultiple endocrine neoplasia, type 1Pathogenic
(Feb 9, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:64571934
GRCh38:
Chr11:64804462
MEN1K534E, K616E, K514E, K611E, K576E, K569E, K574EMultiple endocrine neoplasia, type 1Uncertain significance
(Feb 5, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:64577419
GRCh38:
Chr11:64809947
MEN1P55SMultiple endocrine neoplasia, type 1Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:64572550-64572551
GRCh38:
Chr11:64805078-64805079
MEN1W401fs, W478fs, W436fs, W441fsMultiple endocrine neoplasia, type 1Pathogenic
(Feb 18, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:64577347
GRCh38:
Chr11:64809875
MEN1P79AMultiple endocrine neoplasia, type 1Uncertain significance
(Jan 25, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:64577499-64577500
GRCh38:
Chr11:64810027-64810028
MEN1G28NMultiple endocrine neoplasia, type 1Uncertain significance
(Feb 7, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:64577409-64577420
GRCh38:
Chr11:64809937-64809948
MEN1Multiple endocrine neoplasia, type 1Uncertain significance
(Jan 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:64575345
GRCh38:
Chr11:64807873
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Aug 22, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:64571966-64571997
GRCh38:
Chr11:64804494-64804525
MEN1Multiple endocrine neoplasia, type 1Pathogenic
(Jan 11, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:64575416
GRCh38:
Chr11:64807944
MEN1K201E, K206EMultiple endocrine neoplasia, type 1Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:64575380
GRCh38:
Chr11:64807908
MEN1A218T, A213TMultiple endocrine neoplasia, type 1Uncertain significance
(Jan 6, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:64577365
GRCh38:
Chr11:64809893
MEN1G73CMultiple endocrine neoplasia, type 1Uncertain significance
(Sep 14, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:64573837
GRCh38:
Chr11:64806365
MEN1I306V, I311V, I271VMultiple endocrine neoplasia, type 1Uncertain significance
(Dec 31, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:64572139
GRCh38:
Chr11:64804667
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Dec 30, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr11:64573718
GRCh38:
Chr11:64806246
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Apr 22, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:64575411
GRCh38:
Chr11:64807939
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Jul 12, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:64574510
GRCh38:
Chr11:64807038
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Aug 20, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:64577474
GRCh38:
Chr11:64810002
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Dec 18, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr11:64572684
GRCh38:
Chr11:64805212
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Dec 11, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr11:64572175
GRCh38:
Chr11:64804703
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Oct 13, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:64577387
GRCh38:
Chr11:64809915
MEN1S66fsMultiple endocrine neoplasia, type 1Pathogenic
(Oct 10, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:64577501
GRCh38:
Chr11:64810029
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Sep 20, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:64577322-64577323
GRCh38:
Chr11:64809850-64809851
MEN1A87fsMultiple endocrine neoplasia, type 1Pathogenic
(Sep 19, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:64577363
GRCh38:
Chr11:64809891
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Sep 15, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:64574480
GRCh38:
Chr11:64807008
MEN1Multiple endocrine neoplasia, type 1Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:64575570
GRCh38:
Chr11:64808098
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Sep 6, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:64575534
GRCh38:
Chr11:64808062
MEN1Multiple endocrine neoplasia, type 1Likely benign
(Sep 17, 2022)
criteria provided, single submitter
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