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Items: 1 to 100 of 124

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:2127477
GRCh38:
Chr16:2077476
TSC2Tuberous sclerosis 2, Cortical tubers, Neoplasm,
not provided
Pathogenic
(Apr 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000570837
2.
GRCh37:
Chr11:108129777
GRCh38:
Chr11:108259050
ATMD814fsNeoplasmPathogenicno assertion criteria providedVCV000560352
3.
GRCh37:
Chr11:108178645
GRCh38:
Chr11:108307917-108307918
ATMC1899fsNeoplasmPathogenicno assertion criteria providedVCV000560351
4.
GRCh37:
Chr10:43609949
Chr10:43615142
GRCh38:
Chr10:43114501
Chr10:43119694
RET, RETC634Y, C380Y, I852M, I598MMultiple endocrine neoplasia, type 2aPathogenic
(May 4, 2018)
no assertion criteria providedVCV000549819
5.
GRCh37:
Chr10:43609949
Chr10:43610169
GRCh38:
Chr10:43114501
Chr10:43114721
RET, RETC634Y, C380Y, D707E, D453EMultiple endocrine neoplasia, type 2aPathogenic
(May 4, 2018)
no assertion criteria providedVCV000549806
6.
GRCh37:
Chr10:43609949
Chr10:43613908
GRCh38:
Chr10:43114501
Chr10:43118460
RET, RETC634Y, C380Y, Y791F, Y537FMultiple endocrine neoplasia, type 2Pathogenic
(May 4, 2018)
no assertion criteria providedVCV000549790
7.
GRCh37:
Chr10:43609949
Chr10:43609941
GRCh38:
Chr10:43114501
Chr10:43114493
RET, RETC634Y, C380Y, D631E, D377EMultiple endocrine neoplasia, type 2Pathogenic
(May 4, 2018)
no assertion criteria providedVCV000549786
8.
GRCh37:
Chr10:43620335
Chr10:43601830
Chr10:43596033
GRCh38:
Chr10:43124887
Chr10:43106382
Chr10:43100585
RET, RET, RETR982C, R728C, V292M, V38M, R67HMultiple endocrine neoplasia, type 2Pathogenic
(May 4, 2018)
no assertion criteria providedVCV000549768
9.
GRCh37:
Chr19:1223059
GRCh38:
Chr19:1223060
STK11W332*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376339
10.
GRCh37:
Chr19:1220502
GRCh38:
Chr19:1220503
STK11E199*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376338
11.
GRCh37:
Chr19:1220502
GRCh38:
Chr19:1220503
STK11E199KNeoplasm, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Uncertain significance
(May 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000376337
12.
GRCh37:
Chr19:1220488
GRCh38:
Chr19:1220489
STK11D194VNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376335
13.
GRCh37:
Chr19:1207021
GRCh38:
Chr19:1207022
STK11Q37*Neoplasm, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Pathogenic
(Feb 15, 2017)
criteria provided, multiple submitters, no conflictsVCV000376334
14.
GRCh37:
Chr11:534286
GRCh38:
Chr11:534286
LRRC56, HRASG13SNeoplasm, Transitional cell carcinoma of the bladder, Squamous cell lung carcinoma,
Breast neoplasm, Squamous cell carcinoma of the skin, Lung adenocarcinoma,
Squamous cell carcinoma of the head and neck, Vascular Tumors Including Pyogenic Granuloma, Malignant melanoma of skin
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376323
15.
GRCh37:
Chr11:533874
GRCh38:
Chr11:533874
HRAS, LRRC56Q61PNeoplasm of the large intestine, Neoplasm, Pancreatic adenocarcinoma,
Neoplasm of the thyroid gland, Squamous cell lung carcinoma, Transitional cell carcinoma of the bladder,
Chronic lymphocytic leukemia, Lung adenocarcinoma, Multiple myeloma,
Malignant melanoma of skin, Acute myeloid leukemiaMalignant neoplasm of body of uterus,
Hepatocellular carcinoma, Adenocarcinoma of stomach, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376322
16.
GRCh37:
Chr11:533873-533874
GRCh38:
Chr11:533873-533874
HRAS, LRRC56Q61RNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376321
17.
GRCh37:
Chr11:533873-533874
GRCh38:
Chr11:533873-533874
HRAS, LRRC56Q61RNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376320
18.
GRCh37:
Chr11:533873
GRCh38:
Chr11:533873
HRAS, LRRC56Q61HNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376319
19.
GRCh37:
Chr11:533873
GRCh38:
Chr11:533873
LRRC56, HRASQ61HNeoplasm, Neoplasm of the thyroid gland, Breast neoplasm,
Noonan syndrome 3, Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the skin,
Lung adenocarcinoma, Squamous cell lung carcinoma, Malignant melanoma of skin,
Adenocarcinoma of prostate, Squamous cell carcinoma of the head and neck ...see more
Likely pathogenic
(May 22, 2017)
criteria provided, single submitterVCV000376318
20.
GRCh37:
Chr9:21971186
GRCh38:
Chr9:21971187
CDKN2AP72L, R58*, R7*Neoplasm, Hereditary melanomaPathogenic
(Nov 16, 2019)
criteria provided, single submitterVCV000376310
21.
GRCh37:
Chr9:21971177
GRCh38:
Chr9:21971178
CDKN2AE61*, G75V, E10*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376309
22.
GRCh37:
Chr9:21971153
GRCh38:
Chr9:21971154
CDKN2AE69*, G83V, E18*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376308
23.
GRCh37:
Chr9:21971111
GRCh38:
Chr9:21971112
CDKN2AA97V, H83Y, H32YNeoplasm, Adenocarcinoma of stomach, Pancreatic adenocarcinoma,
Hereditary melanoma, Transitional cell carcinoma of the bladder, Lung adenocarcinoma,
Squamous cell carcinoma of the skin, Malignant melanoma of skin, Hepatocellular carcinoma,
Squamous cell carcinoma of the head and neck
Uncertain significance
(Jun 17, 2018)
criteria provided, single submitterVCV000376307
24.
GRCh37:
Chr9:21971108
GRCh38:
Chr9:21971109
CDKN2AD84Y, R98L, D33YNeoplasm, Hereditary melanoma, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Sep 19, 2020)
criteria provided, conflicting interpretationsVCV000376306
25.
GRCh37:
Chr9:21971096
GRCh38:
Chr9:21971097
CDKN2AE88*, G102V, E37*Neoplasm, Hereditary cancer-predisposing syndrome, Hereditary melanoma
Conflicting interpretations of pathogenicity
(Aug 5, 2020)
criteria provided, conflicting interpretationsVCV000376305
26.
GRCh37:
Chr9:21971029
GRCh38:
Chr9:21971030
CDKN2AW110*, W59*Neoplasm, not providedPathogenic
(Jun 29, 2017)
criteria provided, single submitterVCV000376304
27.
GRCh37:
Chr9:21971028
GRCh38:
Chr9:21971029
CDKN2AG125R, W110*, W59*Neoplasm, Lip and oral cavity carcinomaPathogenic/Likely pathogenic
(Apr 30, 2019)
no assertion criteria providedVCV000376303
28.
GRCh37:
Chr8:128751241
GRCh38:
Chr8:127738995
MYCP260A, P259ANeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376302
29.
GRCh37:
Chr8:128750693
GRCh38:
Chr8:127738447
MYCS77F, S76FNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376301
30.
GRCh37:
Chr8:128750681
GRCh38:
Chr8:127738435
MYCT73I, T72INeoplasm, Carcinoma of esophagus, Non-Hodgkin lymphoma,
Lung adenocarcinoma, Neuroblastoma, Malignant melanoma of skin
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376300
31.
GRCh37:
Chr8:128750639
GRCh38:
Chr8:127738393
MYCA59V, A58VNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376299
32.
GRCh37:
Chr8:128750632
GRCh38:
Chr8:127738386
MYCP57S, P56SNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376298
33.
GRCh37:
Chr8:38285938
GRCh38:
Chr8:38428420
FGFR1S125L, S158L, S117L, S36LNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376297
34.
GRCh37:
Chr8:38282209
GRCh38:
Chr8:38424691
FGFR1P252T, P163T, P250T, P283T, P161T, P244TNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376296
35.
GRCh37:
Chr7:140453175
GRCh38:
Chr7:140753375
BRAFD587ANeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376294
36.
GRCh37:
Chr7:140453174
GRCh38:
Chr7:140753374
BRAFD587ENeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376293
37.
GRCh37:
Chr7:140453174
GRCh38:
Chr7:140753374
BRAFD587ENeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376292
38.
GRCh37:
Chr7:140453159
GRCh38:
Chr7:140753359
BRAFI592MNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376291
39.
GRCh37:
Chr5:149453044
GRCh38:
Chr5:150073481
CSF1RL301*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376274
40.
GRCh37:
Chr5:149453044
GRCh38:
Chr5:150073481
CSF1RL301SNeoplasm, Hematologic neoplasmLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376273
41.
GRCh37:
Chr5:149433646
GRCh38:
Chr5:150054083
CSF1RY969HNeoplasm, Hematologic neoplasmLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376272
42.
GRCh37:
Chr5:149433645
GRCh38:
Chr5:150054082
CSF1RY969CHematologic neoplasm, NeoplasmLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376271
43.
GRCh37:
Chr5:149433645
GRCh38:
Chr5:150054082
CSF1RY969FNeoplasm, Hematologic neoplasmLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376270
44.
GRCh37:
Chr5:149433644
GRCh38:
Chr5:150054081
CSF1RY969*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376269
45.
GRCh37:
Chr5:149433644
GRCh38:
Chr5:150054081
CSF1RY969*NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376268
46.
GRCh37:
Chr5:112175960-112175967
GRCh38:
Chr5:112840263-112840270
APCNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376267
47.
GRCh37:
Chr5:112175687-112175691
GRCh38:
Chr5:112839990-112839994
APCNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376266
48.
GRCh37:
Chr5:112175219-112175238
GRCh38:
Chr5:112839522-112839541
APCNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376265
49.
GRCh37:
Chr5:112175219-112175229
GRCh38:
Chr5:112839522-112839532
APCNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376264
50.
GRCh37:
Chr5:67591247-67591249
GRCh38:
Chr5:68295419-68295421
PIK3R1Vascular Malformations and Overgrowth, NeoplasmPathogenic/Likely pathogenic
(Nov 8, 2020)
no assertion criteria providedVCV000376263
51.
GRCh37:
Chr5:67591132-67591134
GRCh38:
Chr5:68295304-68295306
PIK3R1T576del, T306del, T213del, T276delNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376262
52.
GRCh37:
Chr5:67591097
GRCh38:
Chr5:68295269
PIK3R1N564D, N294D, N201D, N264DMalignant melanoma of skin, Neoplasm, Vascular Malformations and Overgrowth,
Malignant neoplasm of body of uterus, Neoplasm of brain, Neoplasm of the large intestine
Pathogenic/Likely pathogenic
(Nov 8, 2020)
no assertion criteria providedVCV000376261
53.
GRCh37:
Chr5:67591085-67591102
GRCh38:
Chr5:68295257-68295274
PIK3R1NeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376260
54.
GRCh37:
Chr5:67591085
GRCh38:
Chr5:68295257
PIK3R1D560Y, D260Y, D197Y, D290YNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376259
55.
GRCh37:
Chr5:67589618
GRCh38:
Chr5:68293790
PIK3R1R461*, R191*, R98*, R161*Neoplasm, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive,
Immunodeficiency 36
Pathogenic
(Dec 19, 2018)
criteria provided, single submitterVCV000376258
56.
GRCh37:
Chr5:67589550-67589552
GRCh38:
Chr5:68293722-68293724
PIK3R1E439del, E76del, E169del, E139delNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376257
57.
GRCh37:
Chr4:55561764
GRCh38:
Chr4:54695598
KITD52NNeoplasm, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
Conflicting interpretations of pathogenicity
(Sep 15, 2020)
criteria provided, conflicting interpretationsVCV000376254
58.
GRCh37:
Chr3:41266122
GRCh38:
Chr3:41224631
CTNNB1T40S, T33SNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376239
59.
GRCh37:
Chr3:41266121
GRCh38:
Chr3:41224630
CTNNB1T40S, T33SNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376238
60.
GRCh37:
Chr3:41266121
GRCh38:
Chr3:41224630
CTNNB1T40P, T33PNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376236
61.
GRCh37:
Chr3:10183785
GRCh38:
Chr3:10142101
VHLL85PNeoplasm, Erythrocytosis, familial, 2, Von Hippel-Lindau syndrome
Uncertain significance
(Dec 19, 2019)
criteria provided, single submitterVCV000376222
62.
GRCh37:
Chr7:116423475
GRCh38:
Chr7:116783421
METM1268I, M1250I, M820INeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376202
63.
GRCh37:
Chr7:116423475
GRCh38:
Chr7:116783421
METM1268I, M1250I, M820INeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376201
64.
GRCh37:
Chr7:116423428
GRCh38:
Chr7:116783374
METY1253D, Y805D, Y1235DNeoplasm, CarcinomaLikely pathogenic
(May 13, 2016)
no assertion criteria providedVCV000376200
65.
GRCh37:
Chr15:66774168
GRCh38:
Chr15:66481830
MAP2K1L215PNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376199
66.
GRCh37:
Chr15:66774156
GRCh38:
Chr15:66481818
MAP2K1V211DNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376198
67.
GRCh37:
Chr15:66729152
GRCh38:
Chr15:66436814
MAP2K1E120DNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376197
68.
GRCh37:
Chr15:66729152
GRCh38:
Chr15:66436814
MAP2K1E120DNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376196
69.
GRCh37:
Chr15:66729148
GRCh38:
Chr15:66436810
MAP2K1H119PNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376195
70.
GRCh37:
Chr15:66729124
GRCh38:
Chr15:66436786
MAP2K1I111NRasopathy, NeoplasmPathogenic
(Oct 25, 2019)
criteria provided, single submitterVCV000376194
71.
GRCh37:
Chr15:66729100
GRCh38:
Chr15:66436762
MAP2K1I103NNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376193
72.
GRCh37:
Chr15:66729088
GRCh38:
Chr15:66436750
MAP2K1I99TNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376192
73.
GRCh37:
Chr12:56490980
GRCh38:
Chr12:56097196
ERBB3Q809RNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376191
74.
GRCh37:
Chr12:56481857
GRCh38:
Chr12:56088073
ERBB3P262HNeoplasmLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376190
75.
GRCh37:
Chr17:37868208
GRCh38:
Chr17:39711955
ERBB2S280F, S295F, S310FNeoplasm, Ovarian Serous Cystadenocarcinoma, Lung adenocarcinoma,
Breast neoplasm, Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the skin,
Neoplasm of uterine cervix, Adenocarcinoma of stomach, Squamous cell carcinoma of the head and neck,
Neoplasm of the large intestine
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376189
76.
GRCh37:
Chr17:37868208
GRCh38:
Chr17:39711955
ERBB2S280Y, S295Y, S310YNeoplasm, Adenocarcinoma of stomach, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Breast neoplasm, Lung adenocarcinoma,
Squamous cell carcinoma of the skin, not provided, Neoplasm of uterine cervix,
Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma ...see more
Pathogenic
(Dec 1, 2020)
criteria provided, single submitterVCV000376188
77.
GRCh37:
Chr5:67591099
GRCh38:
Chr5:68295271
PIK3R1N564K, N201K, N264K, N294KNeoplasm, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive,
Immunodeficiency 36
Uncertain significance
(Mar 31, 2020)
criteria provided, single submitterVCV000376067
78.
GRCh37:
Chr5:67591099
GRCh38:
Chr5:68295271
PIK3R1N564K, N201K, N264K, N294KNeoplasmLikely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000376066
79.
GRCh37:
Chr5:67589138
GRCh38:
Chr5:68293310
PIK3R1G376R, G106R, G13R, G76RNeoplasm, Glioblastoma, Uterine Carcinosarcoma,
Neoplasm of brain, Malignant melanoma of skin
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376065
80.
GRCh37:
Chr5:67589138
GRCh38:
Chr5:68293310
PIK3R1G376R, G106R, G13R, G76RVascular Malformations and Overgrowth, NeoplasmPathogenic/Likely pathogenic
(Nov 8, 2020)
no assertion criteria providedVCV000376064
81.
GRCh37:
Chr1:115258744
GRCh38:
Chr1:114716123
NRASG13VAdenocarcinoma of stomach, Neoplasm of the large intestine, Medulloblastoma,
Melanoma, Neoplasm, Malignant melanoma of skin,
Transitional cell carcinoma of the bladder, Non-Hodgkin lymphoma, Myelodysplastic syndrome,
Multiple myeloma, Acute myeloid leukemia ...see more
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000375876
82.
GRCh37:
Chr20:57484596
GRCh38:
Chr20:58909541
GNASQ227L, Q228L, Q212L, Q168L, Q870L, Q213LNeoplasm, McCune-Albright syndromePathogenic/Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000210047
83.
GRCh37:
Chr20:57484421
GRCh38:
Chr20:58909366
GNASR201L, R202L, R844L, R142L, R186L, R187LNeoplasm of the large intestine, Hepatocellular carcinoma, Pancreatic adenocarcinoma,
Breast neoplasm, Squamous cell carcinoma of the head and neck, Neoplasm,
McCune-Albright syndrome, Lung adenocarcinoma, Neoplasm of uterine cervix,
Adrenocortical carcinoma, Adenocarcinoma of stomachMalignant melanoma of skin,
...see more
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000210045
84.
GRCh37:
Chr19:1220487
GRCh38:
Chr19:1220488
STK11D194NPeutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Neoplasm,
not provided, Lung adenocarcinoma
Pathogenic/Likely pathogenic
(Aug 12, 2020)
criteria provided, multiple submitters, no conflictsVCV000188348
85.
GRCh37:
Chr7:116417457
GRCh38:
Chr7:116777403
METV1110I, V1092I, V662INeoplasm, Renal cell carcinoma, Renal cell carcinoma, papillary, 1,
Carcinoma, Hereditary cancer-predisposing syndrome
Pathogenic
(Jan 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000186141
86.
GRCh37:
Chr10:89717675
GRCh38:
Chr10:87957918
PTENR234W, R407W, R37WHereditary cancer-predisposing syndrome, Cowden syndrome 1, PTEN hamartoma tumor syndrome,
Neoplasm, not provided
Uncertain significance
(Mar 5, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000184844
87.
GRCh37:
Chr9:21971036
GRCh38:
Chr9:21971037
CDKN2AD108Y, R122L, D57YHereditary melanoma, Hereditary cancer-predisposing syndrome, Neoplasm
Conflicting interpretations of pathogenicity
(Aug 5, 2020)
criteria provided, conflicting interpretationsVCV000182423
88.
GRCh37:
Chr7:140453150
GRCh38:
Chr7:140753350
BRAFF595L, F573L, F598L, F543L, F635L, F507L, F558L, F561LCardio-facio-cutaneous syndrome, Melanoma, Neoplasm,
not provided, Rasopathy
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000177672
89.
GRCh37:
Chr11:533874
GRCh38:
Chr11:533874
HRAS, LRRC56Q61RVascular Tumors Including Pyogenic Granuloma, Neoplasm of the thyroid gland, Neoplasm,
not provided, Epidermal nevus syndrome
Likely pathogenic
(Oct 12, 2017)
criteria provided, single submitterVCV000160364
90.
GRCh37:
Chr19:1221319
GRCh38:
Chr19:1221320
STK11P281LNeoplasm, Peutz-Jeghers syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome, Hereditary breast and ovarian cancer syndrome
Conflicting interpretations of pathogenicity
(Feb 15, 2021)
criteria provided, conflicting interpretationsVCV000142115
91.
GRCh37:
Chr13:48919244
GRCh38:
Chr13:48345108
RB1E137*Neoplasm, RetinoblastomaPathogenic
(Sep 7, 2018)
criteria provided, single submitterVCV000126810
92.
GRCh37:
Chr7:140453179
GRCh38:
Chr7:140753379
BRAFE586K, E534K, E552K, E498K, E626K, E549K, E564K, E589KMelanoma, not specified, Neoplasm
Uncertain significance
(Jun 14, 2012)
criteria provided, single submitterVCV000044812
93.
GRCh37:
Chr7:140481402
GRCh38:
Chr7:140781602
BRAFG469V, G381V, G435V, G447V, G417V, G432V, G472V, G509VMalignant melanoma of skin, Lung adenocarcinoma, Multiple myeloma,
Non-small cell lung cancer, Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the skin,
Neoplasm of the large intestine, Neoplasm, Adenocarcinoma of prostate,
Squamous cell lung carcinoma
Pathogenic
(Dec 30, 2011)
criteria provided, single submitterVCV000044803
94.
GRCh37:
Chr17:7577121
GRCh38:
Chr17:7673803
TP53R141C, R234C, R273C, R114CLi-Fraumeni syndrome 1, Malignant tumor of prostate, Breast neoplasm,
Neoplasm of ovary, Acute myeloid leukemia, Hepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Neoplasm, not provided,
Li-Fraumeni syndrome
Pathogenic/Likely pathogenic
(Sep 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000043594
95.
GRCh37:
Chr7:116411990
GRCh38:
Chr7:116771936
METT1010I, T992I, T562Inot specified, Carcinoma, Neoplasm,
Renal cell carcinoma, not provided, none provided,
Renal cell carcinoma, papillary, 1, Hereditary cancer-predisposing syndrome, Congenital diaphragmatic hernia
Conflicting interpretations of pathogenicity
(Mar 17, 2021)
criteria provided, conflicting interpretationsVCV000041624
96.
GRCh37:
Chr7:116411923
GRCh38:
Chr7:116771869
METR988C, R970C, R540Cnot specified, not provided, Neoplasm,
Renal cell carcinoma, Renal cell carcinoma, papillary, 1, none provided,
Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000041623
97.
GRCh37:
Chr7:140453139
GRCh38:
Chr7:140753339
BRAFT599IMelanoma, Rasopathy, Noonan syndrome,
not provided, Cardiofaciocutaneous syndrome 1, Neoplasm
Pathogenic
(Mar 24, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000040388
98.
GRCh37:
Chr7:140481417
GRCh38:
Chr7:140781617
BRAFG464V, G427V, G376V, G442V, G412V, G430V, G467V, G504VRasopathy, Breast neoplasm, Non-small cell lung cancer,
none provided, Neoplasm
Pathogenic/Likely pathogenic
(Feb 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000040364
99.
GRCh37:
Chr20:57484421
GRCh38:
Chr20:58909366
GNASR201H, R186H, R187H, R202H, R844H, R142HBreast neoplasm, Adrenocortical carcinoma, Lung adenocarcinoma,
Sex cord-stromal tumor, McCune-Albright syndrome, Malignant melanoma of skin,
Neoplasm of uterine cervix, Adenocarcinoma of stomach, Neoplasm,
Neoplasm of the large intestine, Hepatocellular carcinomaCushing syndrome,
Squamous cell carcinoma of the head and neck, Pituitary adenoma 3, multiple types, Pancreatic adenocarcinoma,
...see more
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000015934
100.
GRCh37:
Chr20:57484420
GRCh38:
Chr20:58909365
GNASR201C, R202C, R844C, R186C, R142C, R187CBreast neoplasm, Adrenocortical carcinoma, Lung adenocarcinoma,
Hepatocellular carcinoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Sex cord-stromal tumor, McCune-Albright syndrome, Neoplasm of uterine cervix,
Adenocarcinoma of stomach, NeoplasmNeoplasm of the large intestine,
Cushing syndrome, Pituitary adenoma 3, multiple types, Pancreatic adenocarcinoma,
...see more
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000015933
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