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Items: 1 to 100 of 1431

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:168066340
GRCh38:
Chr1:168097102
GPR161V169M, V186M, V189M, V37M, V55M, V91MMedulloblastomaUncertain significance
(Sep 22, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr9:111693413
GRCh38:
Chr9:108931133
ELP1K5RMedulloblastomaUncertain significance
(Oct 26, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr9:111673430
GRCh38:
Chr9:108911150
ELP1T293N, T407N, T58NMedulloblastomaUncertain significance
(Jul 11, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr1:168056912
GRCh38:
Chr1:168087674
GPR161T280M, T298M, T334M, T412M, T429M, T432MMedulloblastomaUncertain significance
(Aug 30, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr9:111640290
GRCh38:
Chr9:108878010
ELP1Q1166H, Q1280H, Q931HMedulloblastomaUncertain significance
(Mar 29, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr1:168066132
GRCh38:
Chr1:168096894
GPR161G106A, G124A, G160A, G238A, G255A, G258AMedulloblastomaUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr9:111668639
GRCh38:
Chr9:108906359
ELP1H180Q, H415Q, H529QMedulloblastomaUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr9:111642359
GRCh38:
Chr9:108880079
ELP1K1031E, K1145E, K796EMedulloblastomaUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr10:104262628-104309873
SUFUGorlin syndrome, MedulloblastomaUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:104375178-104375179
GRCh38:
Chr10:102615421-102615422
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Aug 26, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr10:104375149
GRCh38:
Chr10:102615392
SUFUL383FGorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Uncertain significance
(Dec 7, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:111640361
GRCh38:
Chr9:108878081
ELP1K908E, K1257E, K1143Enot provided, MedulloblastomaUncertain significance
(Nov 16, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr10:104389844
GRCh38:
Chr10:102630087
SUFUS463GGorlin syndrome, MedulloblastomaUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:104352324
GRCh38:
Chr10:102592567
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Jul 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:104375136
GRCh38:
Chr10:102615379
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Dec 30, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr10:104389891
GRCh38:
Chr10:102630134
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Apr 3, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr10:104264046
GRCh38:
Chr10:102504289
SUFUP46RMedulloblastoma, Gorlin syndromeUncertain significance
(Jul 31, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:104352376
GRCh38:
Chr10:102592619
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Jul 18, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr10:104353753
GRCh38:
Chr10:102593996
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Apr 23, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr10:104375010
GRCh38:
Chr10:102615253
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Jun 8, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:104356971
GRCh38:
Chr10:102597214
SUFUD277EHereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma
Uncertain significance
(Mar 5, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:104375027
GRCh38:
Chr10:102615270
SUFUS342IMedulloblastoma, Gorlin syndromeUncertain significance
(Jul 16, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:104352440
GRCh38:
Chr10:102592683
SUFUQ186*Gorlin syndrome, MedulloblastomaPathogenic
(Apr 28, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:104352425
GRCh38:
Chr10:102592668
SUFUE181KGorlin syndrome, MedulloblastomaUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:104353461
GRCh38:
Chr10:102593704
SUFUGorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Likely benign
(Jul 23, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:104352500
GRCh38:
Chr10:102592743
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Oct 7, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:104359264
GRCh38:
Chr10:102599507
SUFUP329SGorlin syndrome, MedulloblastomaUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr10:104389806
GRCh38:
Chr10:102630049
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Mar 5, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:104353437
GRCh38:
Chr10:102593680
SUFUW214*Gorlin syndrome, MedulloblastomaPathogenic
(Oct 7, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:104268970
GRCh38:
Chr10:102509213
SUFUN76TGorlin syndrome, MedulloblastomaUncertain significance
(May 13, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr10:104268965
GRCh38:
Chr10:102509208
SUFUY74*Gorlin syndrome, MedulloblastomaPathogenic
(May 7, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:104352465
GRCh38:
Chr10:102592708
SUFUV194fsGorlin syndrome, MedulloblastomaPathogenic
(May 6, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:104375160
GRCh38:
Chr10:102615403
SUFUGorlin syndrome, MedulloblastomaLikely pathogenic
(Jun 15, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:104386953
GRCh38:
Chr10:102627196
SUFUV440IGorlin syndrome, MedulloblastomaUncertain significance
(Apr 23, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:104309705-104309708
GRCh38:
Chr10:102549948-102549951
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Jun 7, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr10:104309807
GRCh38:
Chr10:102550050
SUFUP133LGorlin syndrome, MedulloblastomaUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:104263967
GRCh38:
Chr10:102504210
LOC130004614, SUFUP20AMedulloblastoma, Gorlin syndromeUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:104264046-104264049
GRCh38:
Chr10:102504289-102504292
SUFUD47fsGorlin syndrome, MedulloblastomaPathogenic
(Apr 10, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:104353379
GRCh38:
Chr10:102593622
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Apr 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:104377100
GRCh38:
Chr10:102617343
SUFUM404TGorlin syndrome, MedulloblastomaUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:104386920
GRCh38:
Chr10:102627163
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Aug 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:104353841
GRCh38:
Chr10:102594084
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Apr 1, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:104352496
GRCh38:
Chr10:102592739
SUFUGorlin syndrome, MedulloblastomaUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:104375050
GRCh38:
Chr10:102615293
SUFUD350NGorlin syndrome, MedulloblastomaUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr10:104352400
GRCh38:
Chr10:102592643
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Mar 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:104309716
GRCh38:
Chr10:102549959
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Mar 17, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:104309756
GRCh38:
Chr10:102549999
SUFUF116CGorlin syndrome, MedulloblastomaUncertain significance
(May 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:104375096
GRCh38:
Chr10:102615339
SUFUQ365PGorlin syndrome, MedulloblastomaUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr10:104269075
GRCh38:
Chr10:102509318
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Feb 11, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:104352326
GRCh38:
Chr10:102592569
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Jan 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:104264028
GRCh38:
Chr10:102504271
SUFUE40GGorlin syndrome, MedulloblastomaUncertain significance
(Feb 5, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:104309724
GRCh38:
Chr10:102549967
SUFUGorlin syndrome, MedulloblastomaUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:104352363
GRCh38:
Chr10:102592606
SUFUH160RGorlin syndrome, MedulloblastomaUncertain significance
(Jan 17, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:104356943
GRCh38:
Chr10:102597186
SUFUG268DGorlin syndrome, MedulloblastomaUncertain significance
(May 14, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:104377034
GRCh38:
Chr10:102617277
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Aug 9, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:104359311
GRCh38:
Chr10:102599554
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Oct 27, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:104377152-104377153
GRCh38:
Chr10:102617395-102617396
SUFUGorlin syndrome, MedulloblastomaUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:104264000
GRCh38:
Chr10:102504243
LOC130004614, SUFUP32fsMedulloblastoma, Gorlin syndromePathogenic
(Jan 12, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:104377034
GRCh38:
Chr10:102617277
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Jan 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:104377203
GRCh38:
Chr10:102617446
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Feb 20, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:104353395
GRCh38:
Chr10:102593638
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Jan 5, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:104309878
GRCh38:
Chr10:102550121
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Aug 9, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:104263975
GRCh38:
Chr10:102504218
LOC130004614, SUFUHereditary cancer-predisposing syndrome, Medulloblastoma, Gorlin syndrome
Likely benign
(Dec 5, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:104375067
GRCh38:
Chr10:102615310
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Jun 26, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:104353413
GRCh38:
Chr10:102593656
SUFUE206DGorlin syndrome, MedulloblastomaUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:104357065
GRCh38:
Chr10:102597308
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Sep 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:104309876
GRCh38:
Chr10:102550119
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Aug 26, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:104263955
GRCh38:
Chr10:102504198
LOC130004614, SUFUP16AGorlin syndrome, MedulloblastomaUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr10:104352326
GRCh38:
Chr10:102592569
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Oct 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:104309881
GRCh38:
Chr10:102550124
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Aug 9, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:104375129
GRCh38:
Chr10:102615372
SUFUE376VGorlin syndrome, MedulloblastomaUncertain significance
(May 4, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr10:104377048
GRCh38:
Chr10:102617291
SUFUG387SGorlin syndrome, MedulloblastomaUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr10:104353375
GRCh38:
Chr10:102593618
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Oct 31, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:104377049
GRCh38:
Chr10:102617292
SUFUG387DGorlin syndrome, MedulloblastomaUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:104359203
GRCh38:
Chr10:102599446
SUFUI308MGorlin syndrome, MedulloblastomaUncertain significance
(Dec 11, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr10:104309811
GRCh38:
Chr10:102550054
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Oct 19, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:104387018-104387019
GRCh38:
Chr10:102627261-102627262
SUFUGorlin syndrome, MedulloblastomaUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:104353381
GRCh38:
Chr10:102593624
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Oct 9, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr10:104375068-104375082
GRCh38:
Chr10:102615311-102615325
SUFUGorlin syndrome, MedulloblastomaUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:104309718
GRCh38:
Chr10:102549961
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Sep 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:104309772
GRCh38:
Chr10:102550015
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Sep 14, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:104377056
GRCh38:
Chr10:102617299
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Aug 29, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr10:104359251
GRCh38:
Chr10:102599494
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Sep 20, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr10:104377060
GRCh38:
Chr10:102617303
SUFUH391YHereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma
Uncertain significance
(Apr 25, 2023)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:104353730
GRCh38:
Chr10:102593973
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Jul 12, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:104377120
GRCh38:
Chr10:102617363
SUFUT411AMedulloblastoma, Gorlin syndromeUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr10:104263930
GRCh38:
Chr10:102504173
LOC130004614, SUFUS7RGorlin syndrome, MedulloblastomaUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:104375030
GRCh38:
Chr10:102615273
SUFUR343PMedulloblastoma, Gorlin syndromeUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:104269060
GRCh38:
Chr10:102509303
SUFUE106GGorlin syndrome, MedulloblastomaUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:104356911
GRCh38:
Chr10:102597154
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Jun 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:104353458
GRCh38:
Chr10:102593701
SUFUGorlin syndrome, MedulloblastomaLikely benign
(May 19, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr10:104352330
GRCh38:
Chr10:102592573
SUFUGorlin syndrome, MedulloblastomaLikely benign
(Feb 3, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:104356955
GRCh38:
Chr10:102597198
SUFUK272TMedulloblastoma, Gorlin syndromeUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:104353476
GRCh38:
Chr10:102593719
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(May 24, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:104377195-104377273
GRCh38:
Chr10:102617438-102617516
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Jan 28, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:104389810
GRCh38:
Chr10:102630053
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Mar 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:104375011
GRCh38:
Chr10:102615254
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Aug 1, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr10:104264020
GRCh38:
Chr10:102504263
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Feb 21, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:104357057
GRCh38:
Chr10:102597300
SUFUMedulloblastoma, Gorlin syndromeLikely benign
(Jan 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:104353485
GRCh38:
Chr10:102593728
SUFUMedulloblastoma, Gorlin syndromeUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
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