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Items: 1 to 100 of 296

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:10407870
GRCh38:
Chr1:10347812
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877032
2.
GRCh37:
Chr1:10405954
GRCh38:
Chr1:10345896
KIF1BM1201T, M1247TNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000877031
3.
GRCh37:
Chr1:10441286
GRCh38:
Chr1:10381228
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876403
4.
GRCh37:
Chr1:10440883
GRCh38:
Chr1:10380825
KIF1BNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000876402
5.
GRCh37:
Chr1:10438622
GRCh38:
Chr1:10378564
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876326
6.
GRCh37:
Chr1:10438263
GRCh38:
Chr1:10378205
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876325
7.
GRCh37:
Chr1:10438211
GRCh38:
Chr1:10378153
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876324
8.
GRCh37:
Chr1:10436832
GRCh38:
Chr1:10376774
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876278
9.
GRCh37:
Chr1:10436588
GRCh38:
Chr1:10376530
KIF1BNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000876277
10.
GRCh37:
Chr1:10439466
GRCh38:
Chr1:10379408
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876238
11.
GRCh37:
Chr1:10439377
GRCh38:
Chr1:10379319
KIF1BNeuroblastomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000876237
12.
GRCh37:
Chr1:10438200
GRCh38:
Chr1:10378142
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876185
13.
GRCh37:
Chr1:10438186
GRCh38:
Chr1:10378128
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876184
14.
GRCh37:
Chr1:10438148
GRCh38:
Chr1:10378090
KIF1BNeuroblastomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000876183
15.
GRCh37:
Chr1:10437883
GRCh38:
Chr1:10377825
KIF1BNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000876182
16.
GRCh37:
Chr1:10437869
GRCh38:
Chr1:10377811
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876181
17.
GRCh37:
Chr1:10437840
GRCh38:
Chr1:10377782
KIF1BNeuroblastomaUncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000876180
18.
GRCh37:
Chr1:10434394
GRCh38:
Chr1:10374336
KIF1BR1656Q, R1610QNeuroblastoma, Charcot-Marie-Tooth disease, type 2Benign/Likely benign
(Oct 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000876140
19.
GRCh37:
Chr1:10425623
GRCh38:
Chr1:10365565
KIF1BA1511T, A1557TNeuroblastoma, Charcot-Marie-Tooth disease, type 2Uncertain significance
(Aug 10, 2019)
criteria provided, multiple submitters, no conflictsVCV000876139
20.
GRCh37:
Chr1:10425596
GRCh38:
Chr1:10365538
KIF1BQ1548E, Q1502ENeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876138
21.
GRCh37:
Chr1:10399924
GRCh38:
Chr1:10339866
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876069
22.
GRCh37:
Chr1:10397143
GRCh38:
Chr1:10337085
KIF1BNeuroblastoma, Charcot-Marie-Tooth disease, type 2Conflicting interpretations of pathogenicity
(Feb 14, 2019)
criteria provided, conflicting interpretationsVCV000876068
23.
GRCh37:
Chr1:10357034
GRCh38:
Chr1:10296976
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875997
24.
GRCh37:
Chr1:10351125
GRCh38:
Chr1:10291067
KIF1BNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875939
25.
GRCh37:
Chr1:10342533
GRCh38:
Chr1:10282475
KIF1BS459N, S413NNeuroblastomaUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000875785
26.
GRCh37:
Chr1:10328307
GRCh38:
Chr1:10268249
KIF1BL236VNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875479
27.
GRCh37:
Chr1:10322035
GRCh38:
Chr1:10261977
KIF1BNeuroblastomaLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000875478
28.
GRCh37:
Chr1:10440824
GRCh38:
Chr1:10380766
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875369
29.
GRCh37:
Chr1:10440686
GRCh38:
Chr1:10380628
KIF1BNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875368
30.
GRCh37:
Chr1:10440566
GRCh38:
Chr1:10380508
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875367
31.
GRCh37:
Chr1:10440486
GRCh38:
Chr1:10380428
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875321
32.
GRCh37:
Chr1:10440335
GRCh38:
Chr1:10380277
KIF1BNeuroblastomaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000875320
33.
GRCh37:
Chr1:10439080
GRCh38:
Chr1:10379022
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875278
34.
GRCh37:
Chr1:10439029
GRCh38:
Chr1:10378971
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875277
35.
GRCh37:
Chr1:10437503
GRCh38:
Chr1:10377445
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875226
36.
GRCh37:
Chr1:10425498
GRCh38:
Chr1:10365440
KIF1BR1469H, R1515HNeuroblastoma, Charcot-Marie-Tooth disease, type 2Conflicting interpretations of pathogenicity
(Feb 26, 2020)
criteria provided, conflicting interpretationsVCV000875168
37.
GRCh37:
Chr1:10421861
GRCh38:
Chr1:10361803
KIF1BG1382S, G1428SNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875167
38.
GRCh37:
Chr1:10384099
GRCh38:
Chr1:10324041
KIF1BY839C, Y793CNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875118
39.
GRCh37:
Chr1:10342463
GRCh38:
Chr1:10282405
KIF1BM390V, M436VNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874847
40.
GRCh37:
Chr1:10336419
GRCh38:
Chr1:10276361
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874752
41.
GRCh37:
Chr1:10335471
GRCh38:
Chr1:10275413
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874751
42.
GRCh37:
Chr1:10318631
GRCh38:
Chr1:10258573
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874555
43.
GRCh37:
Chr1:10316357
GRCh38:
Chr1:10256299
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874554
44.
GRCh37:
Chr1:10292319
GRCh38:
Chr1:10232261
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874553
45.
GRCh37:
Chr1:10441608
GRCh38:
Chr1:10381550
KIF1BNeuroblastomaUncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000874452
46.
GRCh37:
Chr1:10441585
GRCh38:
Chr1:10381527
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874451
47.
GRCh37:
Chr1:10441539
GRCh38:
Chr1:10381481
KIF1BNeuroblastomaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000874450
48.
GRCh37:
Chr1:10441293
GRCh38:
Chr1:10381235
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874449
49.
GRCh37:
Chr1:10440263
GRCh38:
Chr1:10380205
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874412
50.
GRCh37:
Chr1:10440126
GRCh38:
Chr1:10380068
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874411
51.
GRCh37:
Chr1:10440077
GRCh38:
Chr1:10380019
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874410
52.
GRCh37:
Chr1:10440000
GRCh38:
Chr1:10379942
KIF1BNeuroblastomaUncertain significance
(Mar 23, 2018)
criteria provided, single submitterVCV000874409
53.
GRCh37:
Chr1:10439997
GRCh38:
Chr1:10379939
KIF1BNeuroblastomaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000874408
54.
GRCh37:
Chr1:10438773
GRCh38:
Chr1:10378715
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874355
55.
GRCh37:
Chr1:10438759
GRCh38:
Chr1:10378701
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874354
56.
GRCh37:
Chr1:10437308
GRCh38:
Chr1:10377250
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874293
57.
GRCh37:
Chr1:10436901
GRCh38:
Chr1:10376843
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874292
58.
GRCh37:
Chr1:10436846
GRCh38:
Chr1:10376788
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874291
59.
GRCh37:
Chr1:10421062
GRCh38:
Chr1:10361004
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874244
60.
GRCh37:
Chr1:10412776
GRCh38:
Chr1:10352718
KIF1BS1300C, S1346CNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874243
61.
GRCh37:
Chr1:10412692
GRCh38:
Chr1:10352634
KIF1BR1272H, R1318HNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874242
62.
GRCh37:
Chr1:10270949
GRCh38:
Chr1:10210891
KIF1BNeuroblastomaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000873556
63.
GRCh37:
Chr1:10270919
GRCh38:
Chr1:10210861
KIF1BNeuroblastomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000873555
64.
GRCh37:
Chr1:10435429
GRCh38:
Chr1:10375371
KIF1BI1756M, I1802MNeuroblastomaUncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000801434
65.
GRCh37:
Chr1:10399834
GRCh38:
Chr1:10339776
KIF1BH1098Y, H1144YNeuroblastomaUncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000801433
66.
GRCh37:
Chr1:10318739
GRCh38:
Chr1:10258681
KIF1BNeuroblastomaLikely benign
(May 28, 2019)
criteria provided, single submitterVCV000801432
67.
GRCh37:
Chr1:10394587
GRCh38:
Chr1:10334529
KIF1BCharcot-Marie-Tooth disease, type 2, Neuroblastoma, not provided,
Charcot-Marie-Tooth disease
Conflicting interpretations of pathogenicity
(Apr 26, 2020)
criteria provided, conflicting interpretationsVCV000699521
68.
GRCh37:
Chr1:10423374
GRCh38:
Chr1:10363316
KIF1Bnot provided, Neuroblastoma, Charcot-Marie-Tooth disease, type 2
Likely benign
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000696808
69.
GRCh37:
Chr1:10318582
GRCh38:
Chr1:10258524
KIF1BR72HNeuroblastoma, Charcot-Marie-Tooth disease, type 2Uncertain significance
(Nov 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000642188
70.
GRCh37:
Chr9:98270589
GRCh38:
Chr9:95508307
PTCH1G19SGorlin syndrome, not provided, Neuroblastoma
Conflicting interpretations of pathogenicity
(Nov 1, 2019)
criteria provided, conflicting interpretationsVCV000620611
71.
GRCh37:
Chr11:64577320
GRCh38:
Chr11:64809848
MEN1A88SNeuroblastomaUncertain significance
(Jul 22, 2016)
criteria provided, single submitterVCV000620610
72.
GRCh37:
Chr9:135776990
GRCh38:
Chr9:132901603
TSC1Q830E, Q829E, Q779E, Q709ENeuroblastomaUncertain significance
(May 22, 2017)
criteria provided, single submitterVCV000620608
73.
GRCh37:
Chr19:11097044
GRCh38:
Chr19:10986368
SMARCA4Q179*NeuroblastomaLikely pathogenic
(Jun 19, 2017)
criteria provided, single submitterVCV000590848
74.
GRCh37:
Chr2:29445213
GRCh38:
Chr2:29222347
ALKI1171T, I103TNeuroblastomaPathogenic
(Jan 1, 2017)
no assertion criteria providedVCV000545115
75.
GRCh37:
Chr16:89805118
GRCh38:
Chr16:89738710
FANCA, ZNF276Neuroblastoma, Fanconi anemia, complementation group APathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV000545114
76.
GRCh37:
Chr16:89831348
GRCh38:
Chr16:89764940
FANCAL910FNeuroblastoma, Fanconi anemia, complementation group AConflicting interpretations of pathogenicity
(Jan 1, 2017)
no assertion criteria providedVCV000545113
77.
GRCh37:
Chr1:10408727
GRCh38:
Chr1:10348669
KIF1BCharcot-Marie-Tooth disease, type 2, Neuroblastoma, none provided
Benign
(Jul 29, 2020)
criteria provided, multiple submitters, no conflictsVCV000543261
78.
GRCh37:
Chr1:10336434
GRCh38:
Chr1:10276376
KIF1BNeuroblastoma, Charcot-Marie-Tooth disease, type 2Conflicting interpretations of pathogenicity
(May 15, 2020)
criteria provided, conflicting interpretationsVCV000476791
79.
GRCh37:
Chr16:2129430
GRCh38:
Chr16:2079429
TSC2Neuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438793
80.
GRCh37:
Chr1:110883939
GRCh38:
Chr1:110341317
LOC112577475, RBM15Q638KNeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438785
81.
GRCh37:
ChrX:133511766
GRCh38:
ChrX:134377736
PHF6A40ENeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438782
82.
GRCh37:
Chr9:87342685
GRCh38:
Chr9:84727770
NTRK2L324M, L168M, L311MNeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438780
83.
GRCh37:
Chr7:116340123
GRCh38:
Chr7:116700069
METL329INeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438775
84.
GRCh37:
Chr19:7975941
GRCh38:
Chr19:7911056
MAP2K7L251P, L267PNeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438771
85.
GRCh37:
Chr17:12011131
GRCh38:
Chr17:12107814
MAP2K4L191V, L180VNeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438770
86.
GRCh37:
Chr4:1805479
GRCh38:
Chr4:1803752
FGFR3F331LNeuroblastomaother
(May 1, 2016)
no assertion criteria providedVCV000438762
87.
GRCh37:
Chr13:32906690
GRCh38:
Chr13:32332553
BRCA2E359KHereditary cancer-predisposing syndrome, NeuroblastomaUncertain significance
(Apr 19, 2019)
criteria provided, single submitterVCV000438754
88.
GRCh37:
Chr1:10355752
GRCh38:
Chr1:10295694
KIF1BI523V, I569VPheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease, type 2A1,
Charcot-Marie-Tooth disease, type 2
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000408309
89.
GRCh37:
Chr2:29445228
GRCh38:
Chr2:29222362
ALKM1166R, M98RNeuroblastomaLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376713
90.
GRCh37:
Chr2:29436860
GRCh38:
Chr2:29213994
ALKF1245L, F177LNeuroblastomaLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376712
91.
GRCh37:
Chr17:7577096
GRCh38:
Chr17:7673778
TP53D149A, D242A, D281A, D122AMalignant melanoma of skin, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach,
Pancreatic adenocarcinoma, Hepatocellular carcinoma, Malignant neoplasm of body of uterus,
Transitional cell carcinoma of the bladder, Renal cell carcinoma, papillary, 1, Breast neoplasm,
Lung adenocarcinoma, GlioblastomaSquamous cell carcinoma of the skin,
Squamous cell lung carcinoma, Neuroblastoma, Multiple myeloma,
Chronic lymphocytic leukemia, Uterine Carcinosarcoma, Ovarian Serous Cystadenocarcinoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376589
92.
GRCh37:
Chr17:7577097
GRCh38:
Chr17:7673779
TP53D149H, D242H, D281H, D122HAdenocarcinoma of stomach, Pancreatic adenocarcinoma, Gallbladder cancer,
Uterine Carcinosarcoma, Ovarian Serous Cystadenocarcinoma, Glioblastoma,
Renal cell carcinoma, papillary, 1, Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Breast neoplasm, Transitional cell carcinoma of the bladderSquamous cell carcinoma of the skin,
Lung adenocarcinoma, Li-Fraumeni syndrome, Multiple myeloma,
Neuroblastoma, Malignant melanoma of skin, Chronic lymphocytic leukemia,
Malignant neoplasm of body of uterus, Hepatocellular carcinoma, ...see more
Uncertain significance
(Oct 6, 2020)
criteria provided, single submitterVCV000376588
93.
GRCh37:
Chr17:7577095
GRCh38:
Chr17:7673777
TP53D149E, D242E, D281E, D122EAdenocarcinoma of stomach, Glioblastoma, Squamous cell carcinoma of the skin,
Transitional cell carcinoma of the bladder, Renal cell carcinoma, papillary, 1, Squamous cell lung carcinoma,
Breast neoplasm, Lung adenocarcinoma, Pancreatic adenocarcinoma,
Li-Fraumeni syndrome, NeuroblastomaNeoplasm of ovary,
Chronic lymphocytic leukemia, Multiple myeloma, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Uterine Carcinosarcoma, Hepatocellular carcinoma,
Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma, ...see more
Uncertain significance
(Jan 3, 2018)
criteria provided, single submitterVCV000376587
94.
GRCh37:
Chr17:7577097
GRCh38:
Chr17:7673779
TP53D149N, D242N, D281N, D122NAdenocarcinoma of stomach, Pancreatic adenocarcinoma, Hepatocellular carcinoma,
Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Squamous cell lung carcinoma,
Breast neoplasm, Transitional cell carcinoma of the bladder, Renal cell carcinoma, papillary, 1,
Li-Fraumeni syndrome, GlioblastomaSquamous cell carcinoma of the skin,
Lung adenocarcinoma, Neuroblastoma, Neoplasm of ovary,
Multiple myeloma, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma, ...see more
Pathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV000376586
95.
GRCh37:
Chr17:7577097
GRCh38:
Chr17:7673779
TP53D149Y, D242Y, D281Y, D122YAdenocarcinoma of stomach, Glioblastoma, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck, Breast neoplasm, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the skin, Lung adenocarcinoma,
Li-Fraumeni syndrome, NeuroblastomaRenal cell carcinoma, papillary, 1,
Multiple myeloma, Malignant melanoma of skin, Hepatocellular carcinoma,
Uterine Carcinosarcoma, Chronic lymphocytic leukemia, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, ...see more
Pathogenic
(Mar 14, 2020)
criteria provided, single submitterVCV000376585
96.
GRCh37:
Chr12:112888199
GRCh38:
Chr12:112450395
PTPN11A72DNeoplasm of brain, Chronic lymphocytic leukemia, Neuroblastoma,
Acute myeloid leukemia
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376511
97.
GRCh37:
Chr3:178916945
GRCh38:
Chr3:179199157
PIK3CAK111RNeoplasm of uterine cervix, Adenocarcinoma of stomach, Malignant neoplasm of body of uterus,
Breast neoplasm, Neoplasm of brain, Glioblastoma,
Neuroblastoma, Lung adenocarcinoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Neoplasm of the large intestine ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376484
98.
GRCh37:
Chr3:178916946
GRCh38:
Chr3:179199158
PIK3CAK111NNeoplasm of uterine cervix, Glioblastoma, Neoplasm of brain,
Neoplasm of the large intestine, Breast neoplasm, Lung adenocarcinoma,
Neuroblastoma, Multiple myeloma, Squamous cell carcinoma of the head and neck,
Malignant neoplasm of body of uterus, Adenocarcinoma of stomach ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376483
99.
GRCh37:
Chr3:178916944
GRCh38:
Chr3:179199156
PIK3CAK111EAdenocarcinoma of stomach, Malignant neoplasm of body of uterus, Neoplasm of brain,
Breast neoplasm, Glioblastoma, Lung adenocarcinoma,
Neuroblastoma, Multiple myeloma, Squamous cell carcinoma of the head and neck,
Neoplasm of uterine cervix, Neoplasm of the large intestine ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376482
100.
GRCh37:
Chr2:16082317
GRCh38:
Chr2:15942195
MYCN, MYCNOSP44LMalignant neoplasm of body of uterus, Pancreatic adenocarcinoma, Glioblastoma,
Neuroblastoma, Medulloblastoma
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376460
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