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Items: 1 to 100 of 175

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr13:32910555
GRCh38:
Chr13:32336418
BRCA2Y688CHereditary cancer-predisposing syndrome, Hereditary breast and ovarian cancer syndrome, Melanoma
Uncertain significance
(Oct 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000523315
2.
GRCh37:
Chr9:21971161
GRCh38:
Chr9:21971162
CDKN2AH66P, H15PMelanoma, not providedUncertain significance
(Jan 1, 2017)
criteria provided, multiple submitters, no conflictsVCV000419802
3.
GRCh37:
Chr7:6426892
GRCh38:
Chr7:6387261
RAC1P29SSquamous cell carcinoma of the head and neck, Squamous cell carcinoma of the skin, Malignant melanoma of skin,
Melanoma, Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376362
4.
GRCh37:
Chr1:11184580
GRCh38:
Chr1:11124523
MTORP2213SMelanomanot provided
(Mar 10, 2016)
no assertion providedVCV000376358
5.
GRCh37:
Chr1:11188519
GRCh38:
Chr1:11128462
MTORH1968YMelanomanot provided
(Mar 10, 2016)
no assertion providedVCV000376357
6.
GRCh37:
Chr7:140481411
GRCh38:
Chr7:140781611
BRAFG466A, G378A, G414A, G429A, G432A, G444A, G469A, G506AMultiple myeloma, Squamous cell carcinoma of the head and neck, Squamous cell lung carcinoma,
Malignant melanoma of skin, Lung adenocarcinoma, Neoplasm of the large intestine,
Melanoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376295
7.
GRCh37:
Chr7:140453151
GRCh38:
Chr7:140753351
BRAFF595S, F507S, F543S, F558S, F561S, F573S, F598S, F635SMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376290
8.
GRCh37:
Chr7:140453137
GRCh38:
Chr7:140753337
BRAFV600L, V512L, V548L, V563L, V566L, V578L, V603L, V640LMelanoma, Cardiofaciocutaneous syndrome 1Pathogeniccriteria provided, single submitterVCV000376289
9.
GRCh37:
Chr7:140453136
GRCh38:
Chr7:140753336
BRAFV600A, V512A, V548A, V563A, V566A, V578A, V603A, V640AMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376288
10.
GRCh37:
Chr7:140453132-140453134
GRCh38:
Chr7:140753332-140753334
BRAFK601del, K513del, K549del, K564del, K567del, K579del, K604del, K641delMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376287
11.
GRCh37:
Chr7:140453132
GRCh38:
Chr7:140753332
BRAFK601N, K513N, K549N, K564N, K567N, K579N, K604N, K641NChronic lymphocytic leukemia, Adenocarcinoma of stomach, Rasopathy,
Adenocarcinoma of prostate, Lung adenocarcinoma, Malignant neoplasm of body of uterus,
Melanoma, Neoplasm of the thyroid gland, Malignant melanoma of skin
Uncertain significance
(Mar 31, 2020)
criteria provided, single submitterVCV000376286
12.
GRCh37:
Chr7:140453132
GRCh38:
Chr7:140753332
BRAFK601N, K513N, K549N, K564N, K567N, K579N, K604N, K641NMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376285
13.
GRCh37:
Chr7:140453121-140453122
GRCh38:
Chr7:140753321-140753322
BRAFS605F, S517F, S553F, S568F, S571F, S583F, S608F, S645FMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376284
14.
GRCh37:
Chr7:140453121
GRCh38:
Chr7:140753321
BRAFS605N, S517N, S553N, S568N, S571N, S583N, S608N, S645NMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376283
15.
GRCh37:
Chr4:55599348
GRCh38:
Chr4:54733182
KITV825A, V821A, V820A, V822A, V824A, V826AMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376256
16.
GRCh37:
Chr3:41266122
GRCh38:
Chr3:41224631
CTNNB1T40I, T33IMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376240
17.
GRCh37:
Chr3:41266098
GRCh38:
Chr3:41224607
CTNNB1D32A, D25AMelanoma, Adenocarcinoma of prostate, Malignant neoplasm of body of uterus,
Adenocarcinoma of stomach, Hepatocellular carcinoma, Malignant melanoma of skin,
Transitional cell carcinoma of the bladder, Medulloblastoma, Neoplasm of uterine cervix
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376229
18.
GRCh37:
Chr3:41266074-41266097
GRCh38:
Chr3:41224583-41224606
CTNNB1MelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376227
19.
GRCh37:
Chr3:41266068
GRCh38:
Chr3:41224577
CTNNB1V22A, V15AMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376226
20.
GRCh37:
Chr3:41266066-41266116
GRCh38:
Chr3:41224575-41224625
CTNNB1MelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376225
21.
GRCh37:
Chr3:41266064
GRCh38:
Chr3:41224573
CTNNB1A21T, A14TMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376224
22.
GRCh37:
Chr3:41266040
GRCh38:
Chr3:41224549
CTNNB1A13T, A6TMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376223
23.
GRCh37:
Chr1:115256529-115256530
GRCh38:
Chr1:114713908-114713909
NRASQ61RMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376220
24.
GRCh37:
Chr3:12641195
GRCh38:
Chr3:12599696
RAF1W368S, W287S, W388S, W307S, W335S, W254SMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376186
25.
GRCh37:
Chr4:55152126
GRCh38:
Chr4:54285959
PDGFRAG853D, G866D, G878DMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376185
26.
GRCh37:
Chr4:55152101
GRCh38:
Chr4:54285934
PDGFRAH845Y, H858Y, H870YMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376184
27.
GRCh37:
Chr4:55152090
GRCh38:
Chr4:54285923
PDGFRAR841K, R854K, R866KMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376183
28.
GRCh37:
Chr4:55144144
GRCh38:
Chr4:54277977
PDGFRAV658A, V671A, V683AMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376182
29.
GRCh37:
Chr4:55141083
GRCh38:
Chr4:54274916
PDGFRAP577S, P602S, P590SMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376181
30.
GRCh37:
Chr19:4117617
GRCh38:
Chr19:4117619
MAP2K2V35MMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376180
31.
GRCh37:
Chr19:4117584
GRCh38:
Chr19:4117586
MAP2K2L46FMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376179
32.
GRCh37:
Chr19:4117541
GRCh38:
Chr19:4117543
MAP2K2Q60PMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376178
33.
GRCh37:
Chr19:4110584
GRCh38:
Chr19:4110586
MAP2K2C125SMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376177
34.
GRCh37:
Chr19:4110581
GRCh38:
Chr19:4110583
MAP2K2N126DMelanoma, Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 4
Pathogenic
(Jun 11, 2019)
criteria provided, single submitterVCV000376176
35.
GRCh37:
Chr15:66729177
GRCh38:
Chr15:66436839
MAP2K1F129LMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376175
36.
GRCh37:
Chr15:66727455
GRCh38:
Chr15:66435117
MAP2K1K57NMelanoma, Adenocarcinoma of stomach, Malignant melanoma of skin,
Lung adenocarcinoma, Adenocarcinoma of prostate, Squamous cell carcinoma of the head and neck,
Non-Hodgkin lymphoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376174
37.
GRCh37:
Chr15:66727453
GRCh38:
Chr15:66435115
MAP2K1K57EMelanoma, MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAICPathogenic/Likely pathogenic
(Jun 23, 2020)
no assertion criteria providedVCV000376173
38.
GRCh37:
Chr2:212570064
GRCh38:
Chr2:211705339
ERBB4R393WMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376172
39.
GRCh37:
Chr2:212537981
GRCh38:
Chr2:211673256
ERBB4E542KMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376171
40.
GRCh37:
Chr2:212295699
GRCh38:
Chr2:211430974
ERBB4E872KMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376170
41.
GRCh37:
Chr7:140453133
GRCh38:
Chr7:140753333
BRAFK601R, K513R, K549R, K564R, K567R, K579R, K604R, K641RMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376169
42.
GRCh37:
Chr14:105243048
GRCh38:
Chr14:104776711
AKT1Q79KMelanomaLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376168
43.
GRCh37:
Chr7:140481478
GRCh38:
Chr7:140781678
BRAFR444W, R356W, R392W, R407W, R410W, R422W, R447W, R484WMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376074
44.
GRCh37:
Chr7:140481411
GRCh38:
Chr7:140781611
BRAFG466E, G378E, G414E, G429E, G432E, G444E, G469E, G506ESquamous cell carcinoma of the head and neck, Neoplasm of the large intestine, Multiple myeloma,
Malignant melanoma of skin, Lung adenocarcinoma, Squamous cell lung carcinoma,
Melanoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376073
45.
GRCh37:
Chr7:140481402-140481403
GRCh38:
Chr7:140781602-140781603
BRAFG469S, G381S, G417S, G432S, G435S, G447S, G472S, G509SMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376072
46.
GRCh37:
Chr7:140453161
GRCh38:
Chr7:140753361
BRAFI592V, I504V, I540V, I555V, I558V, I570V, I595V, I632VMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376071
47.
GRCh37:
Chr7:140453154
GRCh38:
Chr7:140753354
BRAFD594A, D506A, D542A, D557A, D560A, D572A, D597A, D634AMelanomaLikely pathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000376070
48.
GRCh37:
Chr7:140453135-140453136
GRCh38:
Chr7:140753335-140753336
BRAFV600E, V512E, V548E, V563E, V566E, V578E, V603E, V640EColonic neoplasm, MelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376069
49.
GRCh37:
Chr4:55594258
GRCh38:
Chr4:54728092
KITV654E, V650E, V651E, V655EMelanomaLikely pathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000376057
50.
GRCh37:
Chr3:41266097
GRCh38:
Chr3:41224606
CTNNB1D32H, D25HMelanoma, Adenocarcinoma of prostate, Malignant neoplasm of body of uterus,
Adenocarcinoma of stomach, Medulloblastoma, Hepatocellular carcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of uterine cervix, Malignant melanoma of skin
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376054
51.
GRCh37:
Chr1:115258730
GRCh38:
Chr1:114716109
NRASA18TMelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376028
52.
GRCh37:
Chr1:115256530
GRCh38:
Chr1:114713909
NRASQ61*MelanomaLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376027
53.
GRCh37:
Chr19:3118942
GRCh38:
Chr19:3118944
GNA11Q209LMalignant melanoma of skin, Melanoma, Uveal melanoma
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376002
54.
GRCh37:
Chr19:3118942
GRCh38:
Chr19:3118944
GNA11Q209PMelanoma, Uveal melanomaPathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376001
55.
GRCh37:
Chr15:66782915
GRCh38:
Chr15:66490577
MAP2K1, SNAPC5N382HMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375984
56.
GRCh37:
Chr15:66777424
GRCh38:
Chr15:66485086
MAP2K1P264SMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375983
57.
GRCh37:
Chr15:66774131
GRCh38:
Chr15:66481793
MAP2K1E203KMelanoma, Inborn genetic diseasesLikely pathogenic
(Jul 2, 2018)
criteria provided, single submitterVCV000375982
58.
GRCh37:
Chr15:66729162
GRCh38:
Chr15:66436824
MAP2K1P124SNoonan syndrome, Transitional cell carcinoma of the bladder, Malignant melanoma of skin,
Cardiofaciocutaneous syndrome 3, Rasopathy, Melanoma,
Malignant neoplasm of body of uterus, Neoplasm of the large intestine, not provided
Pathogenic
(Jul 2, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000375981
59.
GRCh37:
Chr15:66729154
GRCh38:
Chr15:66436816
MAP2K1C121SLung adenocarcinoma, MelanomaPathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375980
60.
GRCh37:
Chr15:66729124
GRCh38:
Chr15:66436786
MAP2K1I111SMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375979
61.
GRCh37:
Chr15:66727451
GRCh38:
Chr15:66435113
MAP2K1Q56PMelanoma, MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC, Non-small cell lung cancer
Pathogenic/Likely pathogenic
(Jun 23, 2020)
no assertion criteria providedVCV000375978
62.
GRCh37:
Chr15:66727441
GRCh38:
Chr15:66435103
MAP2K1F53LMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375977
63.
GRCh37:
Chr9:80409488
GRCh38:
Chr9:77794572
GNAQQ209PMelanoma, Uveal melanomaPathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375957
64.
GRCh37:
Chr9:80409488
GRCh38:
Chr9:77794572
GNAQQ209RAbnormality of cardiovascular system morphology, MelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375956
65.
GRCh37:
Chr9:80409488
GRCh38:
Chr9:77794572
GNAQQ209LMelanoma, Uveal melanomaPathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375955
66.
GRCh37:
Chr7:140453155-140453156
GRCh38:
Chr7:140753355-140753356
BRAFD594N, D506N, D542N, D557N, D560N, D572N, D597N, D634NGallbladder cancer, MelanomaPathogenic/Likely pathogenic
(Oct 30, 2020)
no assertion criteria providedVCV000375948
67.
GRCh37:
Chr7:140453155
GRCh38:
Chr7:140753355
BRAFD594H, D506H, D542H, D557H, D560H, D572H, D597H, D634HNeoplasm of brain, Transitional cell carcinoma of the bladder, Multiple myeloma,
Lung adenocarcinoma, Melanoma, Adrenocortical carcinoma,
Neoplasm of the large intestine, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Chronic lymphocytic leukemia
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000375947
68.
GRCh37:
Chr7:140453154
GRCh38:
Chr7:140753354
BRAFD594V, D506V, D542V, D557V, D560V, D572V, D597V, D634VRasopathy, Cardio-facio-cutaneous syndrome, Neoplasm of the large intestine,
Melanoma
Pathogenic
(May 18, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000375946
69.
GRCh37:
Chr7:140453153
GRCh38:
Chr7:140753353
BRAFD594E, D506E, D542E, D557E, D560E, D572E, D597E, D634EMelanomaPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375945
70.
GRCh37:
Chr7:140453153
GRCh38:
Chr7:140753353
BRAFD594E, D506E, D542E, D557E, D560E, D572E, D597E, D634ECardio-facio-cutaneous syndrome, MelanomaPathogenic/Likely pathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375944
71.
GRCh37:
Chr7:140453149
GRCh38:
Chr7:140753349
BRAFG596R, G508R, G544R, G559R, G562R, G574R, G599R, G636RLung adenocarcinoma, Glioblastoma, Transitional cell carcinoma of the bladder,
Melanoma, Neoplasm of the large intestine, Multiple myeloma
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000375943
72.
GRCh37:
Chr7:140453145-140453146
GRCh38:
Chr7:140753345-140753346
BRAFL597S, L509S, L545S, L560S, L563S, L575S, L600S, L637SMelanomaPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375942
73.
GRCh37:
Chr7:140453136-140453137
GRCh38:
Chr7:140753336-140753337
BRAFV600K, V512K, V548K, V563K, V566K, V578K, V603K, V640Knot provided, Melanoma, Trametinib-Dabrafenib Response,
Vemurafenib-Cobimetinib Response
drug responsecriteria provided, single submitterVCV000375941
74.
GRCh37:
Chr7:140453136-140453137
GRCh38:
Chr7:140753336-140753337
BRAFV600R, V512R, V548R, V563R, V566R, V578R, V603R, V640RMelanomaPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375940
75.
GRCh37:
Chr7:140453135-140453136
GRCh38:
Chr7:140753335-140753336
BRAFV600D, V512D, V548D, V563D, V566D, V578D, V603D, V640DMelanomaPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375939
76.
GRCh37:
Chr4:55602664
GRCh38:
Chr4:54736498
KITA829P, A825P, A824P, A826P, A828P, A830PMelanoma, Gastrointestinal stromal tumorPathogenic/Likely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000375933
77.
GRCh37:
Chr4:55599340
GRCh38:
Chr4:54733174
KITN822K, N818K, N817K, N819K, N821K, N823Knot provided, Acute myeloid leukemia, Gastrointestinal stromal tumor,
Melanoma
Pathogenic
(Jan 8, 2015)
criteria provided, single submitterVCV000375932
78.
GRCh37:
Chr4:55599340
GRCh38:
Chr4:54733174
KITN822K, N818K, N817K, N819K, N821K, N823KAcute myeloid leukemia, Melanoma, Gastrointestinal stromal tumor,
not provided
Conflicting interpretations of pathogenicity
(Jun 2, 2018)
criteria provided, conflicting interpretationsVCV000375931
79.
GRCh37:
Chr4:55599339
GRCh38:
Chr4:54733173
KITN822I, N818I, N817I, N819I, N821I, N823IGastrointestinal stromal tumor, MelanomaPathogenic/Likely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000375930
80.
GRCh37:
Chr4:55599332
GRCh38:
Chr4:54733166
KITD820Y, D816Y, D815Y, D817Y, D819Y, D821YMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375928
81.
GRCh37:
Chr4:55599332
GRCh38:
Chr4:54733166
KITD820H, D816H, D815H, D817H, D819H, D821HMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375927
82.
GRCh37:
Chr4:55594262
GRCh38:
Chr4:54728096
KITN655K, N651K, N652K, N656KGastrointestinal stromal tumor, MelanomaLikely pathogenic
(Jan 3, 2019)
criteria provided, single submitterVCV000375924
83.
GRCh37:
Chr4:55594262
GRCh38:
Chr4:54728096
KITN655K, N651K, N652K, N656KGastrointestinal stromal tumor, MelanomaLikely pathogenic
(Nov 19, 2018)
criteria provided, single submitterVCV000375923
84.
GRCh37:
Chr4:55594261
GRCh38:
Chr4:54728095
KITN655S, N651S, N652S, N656SGastrointestinal stromal tumor, MelanomaUncertain significance
(Mar 23, 2020)
criteria provided, single submitterVCV000375922
85.
GRCh37:
Chr4:55594258
GRCh38:
Chr4:54728092
KITV654A, V650A, V651A, V655AGastrointestinal stromal tumor, MelanomaUncertain significance
(Jan 20, 2020)
criteria provided, single submitterVCV000375921
86.
GRCh37:
Chr4:55593661
GRCh38:
Chr4:54727495
KITL576P, L572P, L573P, L577PNon-small cell lung cancer, Thymoma, Gastrointestinal stromal tumor,
Melanoma
Likely pathogenic
(Jul 11, 2019)
criteria provided, single submitterVCV000375919
87.
GRCh37:
Chr4:55593640
GRCh38:
Chr4:54727474
KITV569G, V565G, V566G, V570GMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375918
88.
GRCh37:
Chr4:55593630
GRCh38:
Chr4:54727464
KITN566D, N562D, N563D, N567DMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375917
89.
GRCh37:
Chr4:55593613
GRCh38:
Chr4:54727447
KITV560G, V556G, V557G, V561GGastrointestinal stromal tumor, MelanomaPathogenic/Likely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000375916
90.
GRCh37:
Chr4:55593613
GRCh38:
Chr4:54727447
KITV560A, V556A, V557A, V561AMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375915
91.
GRCh37:
Chr4:55593613
GRCh38:
Chr4:54727447
KITV560D, V556D, V557D, V561DMelanoma, Gastrointestinal stromal tumorPathogenic/Likely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000375914
92.
GRCh37:
Chr4:55593609-55593611
GRCh38:
Chr4:54727443-54727445
KITV560del, V556del, V557del, V561delGastrointestinal stromal tumor, familial, Thymoma, Melanoma
Pathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000375913
93.
GRCh37:
Chr4:55593610
GRCh38:
Chr4:54727444
KITV559G, V555G, V556G, V560GGastrointestinal stromal tumor, MelanomaPathogenic/Likely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000375912
94.
GRCh37:
Chr4:55593608
GRCh38:
Chr4:54727442
KITK558N, K554N, K555N, K559NMelanoma, Gastrointestinal stromal tumorPathogenic/Likely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000375911
95.
GRCh37:
Chr4:55593608
GRCh38:
Chr4:54727442
KITK558N, K554N, K555N, K559NMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375910
96.
GRCh37:
Chr4:55593603
GRCh38:
Chr4:54727437
KITW557R, W553R, W554R, W558RThymoma, Gastrointestinal stromal tumor, Melanoma
Likely pathogenic
(Nov 28, 2019)
criteria provided, single submitterVCV000375909
97.
GRCh37:
Chr4:55593603
GRCh38:
Chr4:54727437
KITW557R, W553R, W554R, W558RGastrointestinal stromal tumor, MelanomaPathogenic/Likely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000375908
98.
GRCh37:
Chr4:55593591
GRCh38:
Chr4:54727425
KITY553N, Y549N, Y550N, Y554NThymoma, MelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375907
99.
GRCh37:
Chr4:55593584
GRCh38:
Chr4:54727418
KITK550N, K546N, K547N, K551NMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375906
100.
GRCh37:
Chr4:55593584
GRCh38:
Chr4:54727418
KITK550N, K546N, K547N, K551NMelanomaPathogenic
(Oct 2, 2014)
no assertion criteria providedVCV000375905
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