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Items: 1 to 100 of 2499

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:48573397-48573685
SMAD4Juvenile polyposis syndromeLikely benign
(Sep 29, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr18:48604616-48604837
SMAD4Juvenile polyposis syndromeLikely benign
(Oct 27, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr18:48591783-48593567
SMAD4Juvenile polyposis syndromePathogenic
(Nov 26, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr18:48602988-48604837
SMAD4Juvenile polyposis syndromePathogenic
(Nov 9, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr10:88683123-88683476
BMPR1AJuvenile polyposis syndromePathogenic
(Sep 15, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr10:88635625-88651996
BMPR1AJuvenile polyposis syndromeUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr10:88635625-88683476
BMPR1AJuvenile polyposis syndromeUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr10:88676881-88683476
BMPR1AJuvenile polyposis syndromePathogenic
(Jan 14, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:88676881-88679236
BMPR1AJuvenile polyposis syndromePathogenic
(Jun 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:88659533
GRCh38:
Chr10:86899776
BMPR1AJuvenile polyposis syndromeLikely benign
(Oct 3, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr18:48586261
GRCh38:
Chr18:51059891
SMAD4Juvenile polyposis syndromeLikely benign
(Jul 28, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr18:48575098
GRCh38:
Chr18:51048728
SMAD4L98VJuvenile polyposis syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr18:48573555
GRCh38:
Chr18:51047185
SMAD4Juvenile polyposis syndromeLikely benign
(Apr 7, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:88671999
GRCh38:
Chr10:86912242
BMPR1AH178R, H194R, H150R, H203RJuvenile polyposis syndromeUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:88677072
GRCh38:
Chr10:86917315
BMPR1AE284V, E172V, E302V, E258V, E286V, E311VJuvenile polyposis syndromeUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr10:88677057
GRCh38:
Chr10:86917300
BMPR1AV281A, V167A, V253A, V279A, V297A, V306AJuvenile polyposis syndromeUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr18:48573677
GRCh38:
Chr18:51047307
SMAD4Juvenile polyposis syndromeLikely benign
(Apr 8, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr18:48593420
GRCh38:
Chr18:51067050
SMAD4C391RJuvenile polyposis syndromeUncertain significance
(Dec 9, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr18:48581132
GRCh38:
Chr18:51054762
SMAD4Juvenile polyposis syndromeLikely benign
(Aug 29, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr18:48575694
GRCh38:
Chr18:51049324
SMAD4A152TJuvenile polyposis syndromeUncertain significance
(May 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr18:48573418
GRCh38:
Chr18:51047048
SMAD4M1TJuvenile polyposis syndromeUncertain significance
(May 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:88679122
GRCh38:
Chr10:86919365
BMPR1AJuvenile polyposis syndromeLikely benign
(May 28, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:88676921
GRCh38:
Chr10:86917164
BMPR1AM122V, M234V, M236V, M208V, M252V, M261VJuvenile polyposis syndromeUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:88677093
GRCh38:
Chr10:86917336
BMPR1AJuvenile polyposis syndromeLikely benign
(Sep 10, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:88672152
GRCh38:
Chr10:86912395
BMPR1AJuvenile polyposis syndromeLikely benign
(Sep 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:88649920
GRCh38:
Chr10:86890163
BMPR1AP29T, P57TJuvenile polyposis syndromeUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr18:48604611
GRCh38:
Chr18:51078241
SMAD4Juvenile polyposis syndromeLikely benign
(Aug 31, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr10:88676875
GRCh38:
Chr10:86917118
BMPR1AJuvenile polyposis syndromeLikely benign
(Jul 22, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:88672120
GRCh38:
Chr10:86912363
BMPR1AJuvenile polyposis syndromeLikely benign
(Jun 14, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:88683343
GRCh38:
Chr10:86923586
BMPR1AJuvenile polyposis syndromeLikely benign
(Mar 26, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr18:48573533
GRCh38:
Chr18:51047163
SMAD4Juvenile polyposis syndromeLikely benign
(Jan 6, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr18:48593573
GRCh38:
Chr18:51067203
SMAD4Juvenile polyposis syndromeLikely benign
(Sep 3, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr18:48584481
GRCh38:
Chr18:51058111
SMAD4Juvenile polyposis syndromeLikely benign
(Feb 27, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:88683271
GRCh38:
Chr10:86923514
BMPR1AJuvenile polyposis syndromeLikely benign
(May 27, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr18:48602991
GRCh38:
Chr18:51076621
SMAD4Juvenile polyposis syndromeUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr18:48575706
GRCh38:
Chr18:51049336
SMAD4Juvenile polyposis syndromeLikely benign
(Sep 21, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:88679044
GRCh38:
Chr10:86919287
BMPR1AJuvenile polyposis syndromeLikely benign
(Oct 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:88683233
GRCh38:
Chr10:86923476
BMPR1AJuvenile polyposis syndromeLikely benign
(Feb 11, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr18:48584769
GRCh38:
Chr18:51058399
SMAD4H283YJuvenile polyposis syndromeUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr18:48591990
GRCh38:
Chr18:51065620
SMAD4Juvenile polyposis syndromeLikely benign
(Jan 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:88679042
GRCh38:
Chr10:86919285
BMPR1AT344A, T353A, T214A, T328A, T300A, T326AJuvenile polyposis syndromeUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:88677073
GRCh38:
Chr10:86917316
BMPR1AE286D, E302D, E258D, E284D, E172D, E311DJuvenile polyposis syndromeUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr18:48575653
GRCh38:
Chr18:51049283
SMAD4Juvenile polyposis syndromeLikely benign
(Feb 10, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:88649993
GRCh38:
Chr10:86890236
BMPR1AJuvenile polyposis syndromeLikely benign
(Feb 10, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr18:48584846
GRCh38:
Chr18:51058476
SMAD4Juvenile polyposis syndromeLikely benign
(May 16, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr18:48603070
GRCh38:
Chr18:51076700
SMAD4Juvenile polyposis syndromeLikely benign
(Aug 20, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr18:48604750
GRCh38:
Chr18:51078380
SMAD4W524CJuvenile polyposis syndromeLikely pathogenic
(Jul 6, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:88676873
GRCh38:
Chr10:86917116
BMPR1AJuvenile polyposis syndromeLikely benign
(Jul 31, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr10:88659862
GRCh38:
Chr10:86900105
BMPR1AF170C, F142CJuvenile polyposis syndromeUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr18:48586225
GRCh38:
Chr18:51059855
SMAD4Juvenile polyposis syndromeLikely benign
(Sep 7, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr18:48584478-48584480
GRCh38:
Chr18:51058108-51058110
SMAD4Juvenile polyposis syndromeLikely benign
(May 16, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr18:48581234
GRCh38:
Chr18:51054864
SMAD4Q180*Juvenile polyposis syndromePathogenic
(Jul 29, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:88659783
GRCh38:
Chr10:86900026
BMPR1AJuvenile polyposis syndromeLikely pathogenic
(Sep 27, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:88659576
GRCh38:
Chr10:86899819
BMPR1AR120P, R92PJuvenile polyposis syndromeUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:88651898
GRCh38:
Chr10:86892141
BMPR1AC82Y, C54YJuvenile polyposis syndromeUncertain significance
(Jul 31, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr18:48604828
GRCh38:
Chr18:51078458
SMAD4Juvenile polyposis syndromeLikely benign
(May 6, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:88677009
GRCh38:
Chr10:86917252
BMPR1AT151N, T281N, T265N, T290N, T237N, T263NJuvenile polyposis syndromeUncertain significance
(Nov 24, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr18:48575656
GRCh38:
Chr18:51049286
SMAD4Juvenile polyposis syndromeUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr18:48573572
GRCh38:
Chr18:51047202
SMAD4D52EJuvenile polyposis syndromeUncertain significance
(May 4, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr18:48575239
GRCh38:
Chr18:51048869
SMAD4Juvenile polyposis syndromeLikely benign
(May 4, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:88659767
GRCh38:
Chr10:86900010
BMPR1AJuvenile polyposis syndromeLikely benign
(Apr 28, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr18:48584816
GRCh38:
Chr18:51058446
SMAD4Juvenile polyposis syndromeLikely benign
(Apr 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:88681460
GRCh38:
Chr10:86921703
BMPR1AJuvenile polyposis syndromeLikely benign
(Apr 28, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr18:48593509
GRCh38:
Chr18:51067139
SMAD4Juvenile polyposis syndromeLikely benign
(Apr 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr18:48593506
GRCh38:
Chr18:51067136
SMAD4Juvenile polyposis syndromeLikely benign
(Jul 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:88683276
GRCh38:
Chr10:86923519
BMPR1AJuvenile polyposis syndromeLikely benign
(Apr 20, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr18:48593573
GRCh38:
Chr18:51067203
SMAD4Juvenile polyposis syndromeLikely benign
(Apr 16, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:88681409
GRCh38:
Chr10:86921652
BMPR1AF319L, F431L, F405L, F433L, F449L, F458LJuvenile polyposis syndromeUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:88683208
GRCh38:
Chr10:86923451
BMPR1AV471A, V473A, V489A, V359A, V445A, V498AJuvenile polyposis syndromeUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr18:48584814
GRCh38:
Chr18:51058444
SMAD4P298SJuvenile polyposis syndromeUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:88672116
GRCh38:
Chr10:86912359
BMPR1AG217V, G242V, G189V, G233VJuvenile polyposis syndromeUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr18:48603119
GRCh38:
Chr18:51076749
SMAD4S474TJuvenile polyposis syndromeUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr10:88681468-88681479
GRCh38:
Chr10:86921711-86921722
BMPR1AJuvenile polyposis syndromeLikely benign
(Apr 8, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:88679210
GRCh38:
Chr10:86919453
BMPR1AA384T, A356T, A382T, A409T, A270T, A400TJuvenile polyposis syndromeUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr18:48575047
GRCh38:
Chr18:51048677
SMAD4Juvenile polyposis syndromeBenign
(Apr 8, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr18:48581191
GRCh38:
Chr18:51054821
SMAD4Juvenile polyposis syndromeLikely benign
(Apr 7, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr18:48603056
GRCh38:
Chr18:51076686
SMAD4T453AJuvenile polyposis syndromeUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:88683186
GRCh38:
Chr10:86923429
BMPR1AS352P, S438P, S464P, S491P, S482P, S466PJuvenile polyposis syndromeUncertain significance
(Apr 2, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr18:48604715
GRCh38:
Chr18:51078345
SMAD4Y513NJuvenile polyposis syndromeUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:88659607
GRCh38:
Chr10:86899850
BMPR1AJuvenile polyposis syndromeLikely benign
(Apr 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr18:48573449
GRCh38:
Chr18:51047079
SMAD4Juvenile polyposis syndromeLikely benign
(Mar 31, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:88659892
GRCh38:
Chr10:86900135
BMPR1AJuvenile polyposis syndromeUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr18:48573546
GRCh38:
Chr18:51047176
SMAD4V44LJuvenile polyposis syndromeUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr18:48584593
GRCh38:
Chr18:51058223
SMAD4Q256*Juvenile polyposis syndromePathogenic
(Aug 30, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr18:48604764
GRCh38:
Chr18:51078394
SMAD4L529*Juvenile polyposis syndromePathogenic
(Aug 16, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr18:48581369
GRCh38:
Chr18:51054999
SMAD4Juvenile polyposis syndromeUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr18:48575226
GRCh38:
Chr18:51048856
SMAD4Juvenile polyposis syndromeLikely benign
(Mar 23, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr18:48575714
GRCh38:
Chr18:51049344
SMAD4Juvenile polyposis syndromeLikely benign
(Mar 21, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr18:48573585-48573588
GRCh38:
Chr18:51047215-51047218
SMAD4Juvenile polyposis syndromePathogenic
(Mar 18, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:88659900
GRCh38:
Chr10:86900143
BMPR1AJuvenile polyposis syndromeLikely benign
(Mar 14, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:88649917
GRCh38:
Chr10:86890160
BMPR1AJuvenile polyposis syndromeLikely benign
(Mar 14, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr18:48575146
GRCh38:
Chr18:51048776
SMAD4Y114DJuvenile polyposis syndromeUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:88676961
GRCh38:
Chr10:86917204
BMPR1AW274*, W221*, W247*, W265*, W135*, W249*Juvenile polyposis syndromePathogenic
(Mar 12, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:88659658
GRCh38:
Chr10:86899901
BMPR1AJuvenile polyposis syndromeLikely benign
(Mar 12, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr18:48584604-48584605
GRCh38:
Chr18:51058234-51058235
SMAD4H261fsJuvenile polyposis syndromePathogenic
(Mar 10, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr18:48581133
GRCh38:
Chr18:51054763
SMAD4Juvenile polyposis syndromeLikely benign
(Sep 19, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:88681349
GRCh38:
Chr10:86921592
BMPR1AJuvenile polyposis syndromeLikely benign
(Mar 5, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr18:48593453
GRCh38:
Chr18:51067083
SMAD4L402IJuvenile polyposis syndromeUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr18:48591900
GRCh38:
Chr18:51065530
SMAD4D355NJuvenile polyposis syndromeUncertain significance
(Aug 26, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:88677024
GRCh38:
Chr10:86917267
BMPR1AS242N, S286N, S295N, S268N, S270N, S156NJuvenile polyposis syndromeUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
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