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Links from MedGen

Items: 1 to 100 of 1202

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:2905963
GRCh38:
Chr11:2884733
CDKN1CG242S, G253SBeckwith-Wiedemann syndromeUncertain significance
(Jan 30, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr11:2905953
GRCh38:
Chr11:2884723
CDKN1CA245V, A256VBeckwith-Wiedemann syndromeUncertain significance
(Jul 31, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:2906146
GRCh38:
Chr11:2884916
CDKN1CP181S, P192SBeckwith-Wiedemann syndromeUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:2906690
GRCh38:
Chr11:2885460
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Oct 7, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:2906094
GRCh38:
Chr11:2884864
CDKN1CA198D, A209DBeckwith-Wiedemann syndromeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:2905303
GRCh38:
Chr11:2884073
CDKN1CR106PBeckwith-Wiedemann syndromeLikely benign
(May 29, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:2906391
GRCh38:
Chr11:2885161
CDKN1CA110V, A99VBeckwith-Wiedemann syndromeUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:2906277
GRCh38:
Chr11:2885047
CDKN1CP148R, P137RBeckwith-Wiedemann syndromeUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:2906115
GRCh38:
Chr11:2884885
CDKN1CP202L, P191LBeckwith-Wiedemann syndromeUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:2905259
GRCh38:
Chr11:2884029
CDKN1CQ298R, Q309R, R121GBeckwith-Wiedemann syndromeUncertain significance
(Mar 21, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:2906194
GRCh38:
Chr11:2884964
CDKN1CA176P, A165PInborn genetic diseases, Beckwith-Wiedemann syndromeLikely benign
(May 23, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:2906024
GRCh38:
Chr11:2884794
CDKN1CQ221H, Q232HBeckwith-Wiedemann syndromeUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:2906444
GRCh38:
Chr11:2885214
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Mar 11, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:2906406
GRCh38:
Chr11:2885176
CDKN1CA105V, A94VBeckwith-Wiedemann syndromeUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr11:2906271
GRCh38:
Chr11:2885041
CDKN1CP139Q, P150QBeckwith-Wiedemann syndromeUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:2906294
GRCh38:
Chr11:2885064
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:2905952
GRCh38:
Chr11:2884722
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Mar 1, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:2906446
GRCh38:
Chr11:2885216
CDKN1CR81C, R92CBeckwith-Wiedemann syndromeUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:2905970
GRCh38:
Chr11:2884740
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jun 28, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:2906126
GRCh38:
Chr11:2884896
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Aug 6, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:2906282
GRCh38:
Chr11:2885052
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Sep 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:2905915
GRCh38:
Chr11:2884685
CDKN1CG258W, G269WBeckwith-Wiedemann syndromeUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:2906164
GRCh38:
Chr11:2884934
CDKN1CP175A, P186ABeckwith-Wiedemann syndromeUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:2906631-2906632
GRCh38:
Chr11:2885401-2885402
CDKN1CC30fs, C19fsBeckwith-Wiedemann syndromePathogenic
(Jan 16, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:2906187-2906188
GRCh38:
Chr11:2884957-2884958
CDKN1CL167A, L178ABeckwith-Wiedemann syndromeUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:2906040
GRCh38:
Chr11:2884810
CDKN1CG216D, G227DBeckwith-Wiedemann syndromeUncertain significance
(Dec 9, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr11:2906069
GRCh38:
Chr11:2884839
CDKN1CD206E, D217EBeckwith-Wiedemann syndromeUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:2906613
GRCh38:
Chr11:2885383
CDKN1CP36L, P25LBeckwith-Wiedemann syndromeUncertain significance
(May 31, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:2906141-2906142
GRCh38:
Chr11:2884911-2884912
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Mar 5, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:2905273
GRCh38:
Chr11:2884043
CDKN1CW116SBeckwith-Wiedemann syndromeLikely benign
(Jun 14, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:2905375
GRCh38:
Chr11:2884145
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jan 26, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:2906551
GRCh38:
Chr11:2885321
CDKN1CD57N, D46NBeckwith-Wiedemann syndromeUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:2906073
GRCh38:
Chr11:2884843
CDKN1CP205L, P216LBeckwith-Wiedemann syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:2906093-2906094
GRCh38:
Chr11:2884863-2884864
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Mar 7, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:2906043
GRCh38:
Chr11:2884813
CDKN1CQ215P, Q226PBeckwith-Wiedemann syndromeUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr11:2906098
GRCh38:
Chr11:2884868
CDKN1CP208A, P197ABeckwith-Wiedemann syndromeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:2905303
GRCh38:
Chr11:2884073
CDKN1CR106LBeckwith-Wiedemann syndromeLikely benign
(Sep 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:2905949
GRCh38:
Chr11:2884719
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:2905307
GRCh38:
Chr11:2884077
CDKN1CA293V, R105C, A282VBeckwith-Wiedemann syndromeUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr11:2905340
GRCh38:
Chr11:2884110
CDKN1CQ94fsBeckwith-Wiedemann syndromePathogenic
(Apr 29, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:2906240
GRCh38:
Chr11:2885010
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(May 9, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:2906270-2906271
GRCh38:
Chr11:2885040-2885041
CDKN1CV140fs, V151fsBeckwith-Wiedemann syndromePathogenic
(May 8, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:2905350
GRCh38:
Chr11:2884120
CDKN1CR268fs, R279fs, S90fsBeckwith-Wiedemann syndromeLikely pathogenic
(Sep 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:2906311
GRCh38:
Chr11:2885081
CDKN1CP126A, P137ABeckwith-Wiedemann syndromeUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:2905382
GRCh38:
Chr11:2884152
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Aug 12, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:2906668
GRCh38:
Chr11:2885438
CDKN1CR7C, R18CBeckwith-Wiedemann syndromeUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:2906270
GRCh38:
Chr11:2885040
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Sep 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:2906175
GRCh38:
Chr11:2884945
CDKN1CP171fs, P182fsBeckwith-Wiedemann syndromePathogenic
(Apr 12, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:2906611
GRCh38:
Chr11:2885381
CDKN1CV26L, V37LBeckwith-Wiedemann syndromeUncertain significance
(Apr 10, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:2905959-2905960
GRCh38:
Chr11:2884729-2884730
CDKN1CT243fs, T254fsBeckwith-Wiedemann syndromePathogenic
(Apr 9, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:2905272
GRCh38:
Chr11:2884042
CDKN1CW116*, G294S, G305SBeckwith-Wiedemann syndromeUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:2906263
GRCh38:
Chr11:2885033
CDKN1CV142I, V153IBeckwith-Wiedemann syndromeUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:2905907
GRCh38:
Chr11:2884677
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Oct 6, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:2906058
GRCh38:
Chr11:2884828
CDKN1CQ210P, Q221PBeckwith-Wiedemann syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:2906228
GRCh38:
Chr11:2884998
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Mar 25, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:2906405
GRCh38:
Chr11:2885175
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Mar 17, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:2906347
GRCh38:
Chr11:2885117
CDKN1CS114T, S125TBeckwith-Wiedemann syndromeUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:2906656
GRCh38:
Chr11:2885426
CDKN1CP11S, P22SBeckwith-Wiedemann syndromeUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:2906359
GRCh38:
Chr11:2885129
CDKN1CP110S, P121SBeckwith-Wiedemann syndromeUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:2906450
GRCh38:
Chr11:2885220
CDKN1CF90L, F79LBeckwith-Wiedemann syndromeUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:2906104
GRCh38:
Chr11:2884874
CDKN1CP195S, P206SBeckwith-Wiedemann syndromeUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:2906463
GRCh38:
Chr11:2885233
CDKN1CS86*, S75*Beckwith-Wiedemann syndromePathogenic
(Feb 18, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:2905381
GRCh38:
Chr11:2884151
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:2906637-2906652
GRCh38:
Chr11:2885407-2885422
CDKN1CV23fs, V12fsBeckwith-Wiedemann syndromePathogenic
(Feb 21, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:2905369-2905376
GRCh38:
Chr11:2884139-2884146
CDKN1CBeckwith-Wiedemann syndromeUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:2905259
GRCh38:
Chr11:2884029
CDKN1CQ309L, R121*, Q298LBeckwith-Wiedemann syndromeUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:2906694
GRCh38:
Chr11:2885464
CDKN1CT9RBeckwith-Wiedemann syndromeUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:2906019
GRCh38:
Chr11:2884789
CDKN1CG223V, G234VBeckwith-Wiedemann syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:2906300
GRCh38:
Chr11:2885070
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Aug 8, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:2905330
GRCh38:
Chr11:2884100
CDKN1CR97KBeckwith-Wiedemann syndromeLikely benign
(Oct 10, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:2906175
GRCh38:
Chr11:2884945
CDKN1CP171L, P182LBeckwith-Wiedemann syndromeUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr11:2905937
GRCh38:
Chr11:2884707
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jun 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:2905966
GRCh38:
Chr11:2884736
CDKN1CA241T, A252TBeckwith-Wiedemann syndromeUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:2905365-2905368
GRCh38:
Chr11:2884135-2884138
CDKN1CBeckwith-Wiedemann syndromeUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:2906652
GRCh38:
Chr11:2885422
CDKN1CV12G, V23GBeckwith-Wiedemann syndromeUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:2906357
GRCh38:
Chr11:2885127
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Oct 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:2906480
GRCh38:
Chr11:2885250
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Apr 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:2906682
GRCh38:
Chr11:2885452
CDKN1CE13G, E2GBeckwith-Wiedemann syndromeUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:2906184
GRCh38:
Chr11:2884954
CDKN1CA168D, A179DBeckwith-Wiedemann syndromeUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:2906100-2906165
GRCh38:
Chr11:2884870-2884935
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jun 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:2906690
GRCh38:
Chr11:2885460
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jul 11, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:2906051
GRCh38:
Chr11:2884821
CDKN1CS212R, S223RBeckwith-Wiedemann syndromeUncertain significance
(Dec 27, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr11:2906356
GRCh38:
Chr11:2885126
CDKN1CA122S, A111SBeckwith-Wiedemann syndromeUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr11:2906223-2906252
GRCh38:
Chr11:2884993-2885022
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jun 8, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:2906351
GRCh38:
Chr11:2885121
CDKN1CBeckwith-Wiedemann syndromeUncertain significance
(Jan 21, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:2906147
GRCh38:
Chr11:2884917
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Jul 20, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:2905973
GRCh38:
Chr11:2884743
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Dec 17, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr11:2905971
GRCh38:
Chr11:2884741
CDKN1CP239H, P250HBeckwith-Wiedemann syndromeUncertain significance
(Dec 17, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr11:2905377
GRCh38:
Chr11:2884147
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Sep 23, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:2906664
GRCh38:
Chr11:2885434
CDKN1CG19E, G8EBeckwith-Wiedemann syndromeUncertain significance
(Dec 11, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr11:2905300
GRCh38:
Chr11:2884070
CDKN1CC295W, C284W, V107GBeckwith-Wiedemann syndromeUncertain significance
(Jan 21, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:2906236
GRCh38:
Chr11:2885006
CDKN1CP151T, P162TBeckwith-Wiedemann syndromeUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:2905339
GRCh38:
Chr11:2884109
CDKN1CQ94LBeckwith-Wiedemann syndromeLikely benign
(Sep 28, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:2906340
GRCh38:
Chr11:2885110
CDKN1CD127fs, D116fsBeckwith-Wiedemann syndromePathogenic
(Sep 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:2906587
GRCh38:
Chr11:2885357
CDKN1CE34*, E45*Beckwith-Wiedemann syndromePathogenic
(Sep 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:2906057
GRCh38:
Chr11:2884827
CDKN1CE211fs, E222fsBeckwith-Wiedemann syndromePathogenic
(Sep 17, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:2906501-2906502
GRCh38:
Chr11:2885271-2885272
CDKN1CG64fs, G75fsBeckwith-Wiedemann syndromePathogenic
(Sep 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:2906120-2906187
GRCh38:
Chr11:2884890-2884957
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Sep 4, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:2905885
GRCh38:
Chr11:2884655
CDKN1CBeckwith-Wiedemann syndromeLikely benign
(Aug 31, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:2905315
GRCh38:
Chr11:2884085
CDKN1CD279fs, D290fs, M102fsBeckwith-Wiedemann syndromePathogenic
(Oct 19, 2022)
criteria provided, single submitter
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