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Links from MedGen

Items: 1 to 100 of 1074

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:68846136
GRCh38:
Chr16:68812233
CDH1N369KMalignant tumor of prostate, Hereditary diffuse gastric adenocarcinoma, Blepharocheilodontic syndrome 1
Uncertain significance
(Oct 12, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr13:32936757
GRCh38:
Chr13:32362620
BRCA2E2603*, E2635*, E496*, E991*Malignant tumor of prostateLikely pathogenic
(May 31, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr10:89623473-89623474
GRCh38:
Chr10:87863716-87863717
PTENFamilial meningioma, Malignant tumor of prostate, Glioma susceptibility 2,
Cowden syndrome 1, Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jan 3, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
ChrX:66937330
GRCh38:
ChrX:67717488
ARN196K, N728KMalignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
5.
GRCh37:
ChrX:66863132
GRCh38:
ChrX:67643290
ARD19H, D551HMalignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:66863125
GRCh38:
ChrX:67643283
ARL16F, L548FMalignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
7.
GRCh37:
ChrX:66766196
GRCh38:
ChrX:67546354
ARA403VMalignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:66766183
GRCh38:
ChrX:67546341
ARW399RMalignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:66766163
GRCh38:
ChrX:67546321
ARP392RMalignant tumor of prostate, not specifiedConflicting interpretations of pathogenicity
(Aug 4, 2023)
criteria provided, conflicting interpretations
10.
GRCh37:
ChrX:66766051
GRCh38:
ChrX:67546209
ARE355QMalignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrX:66766013
GRCh38:
ChrX:67546171
ARP342LMalignant tumor of prostateUncertain significance
(Jan 12, 2023)
criteria provided, single submitter
12.
GRCh37:
ChrX:66765196
GRCh38:
ChrX:67545354
AR, LOC109504725Q70*Malignant tumor of prostatePathogenic
(May 4, 2022)
criteria provided, single submitter
13.
GRCh37:
ChrX:66764995
GRCh38:
ChrX:67545153
ARV3MOvarian cancer, Androgen resistance syndrome, Malignant tumor of prostate,
Kennedy disease, Partial androgen insensitivity syndrome, Hypospadias 1, X-linked,
Androgen resistance syndrome, Kennedy disease
Conflicting interpretations of pathogenicity
(Feb 9, 2022)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr10:89711975
GRCh38:
Chr10:87952218
PTENM198T, M1T, M371TFamilial meningioma, Cowden syndrome 1, Macrocephaly-autism syndrome,
Malignant tumor of prostate, Glioma susceptibility 2, PTEN hamartoma tumor syndrome
Uncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr13:32913281-32913282
GRCh38:
Chr13:32339144-32339145
BRCA2L1598fsWilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2, Malignant tumor of prostate,
Glioma susceptibility 3, Medulloblastoma, Familial cancer of breast,
Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome
Pathogenic
(Apr 3, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
ChrX:66905875
GRCh38:
ChrX:67686033
ARQ570R, S598G, S66GMalignant tumor of prostate, Kennedy disease, Androgen resistance syndrome,
Non-obstructive azoospermia
Conflicting interpretations of pathogenicity
(Jun 13, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr16:68849589
GRCh38:
Chr16:68815686
CDH1D437N, D498Nnot provided, Familial cancer of breast, Blepharocheilodontic syndrome 1,
Endometrial carcinoma, Hereditary diffuse gastric adenocarcinoma, Neoplasm of ovary,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
Uncertain significance
(Mar 16, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:68771547
GRCh38:
Chr16:68737644
CDH1not provided, Familial cancer of breast, Hereditary diffuse gastric adenocarcinoma,
Blepharocheilodontic syndrome 1, Malignant tumor of prostate
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
ChrX:66765158-66765159
GRCh38:
ChrX:67545316-67545317
AR, LOC109504725Androgen resistance syndrome, Partial androgen insensitivity syndrome, Kennedy disease,
Hypospadias 1, X-linked, Malignant tumor of prostate, not provided
Likely benign
(Dec 6, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr13:32903591
GRCh38:
Chr13:32329454
BRCA2E215fsHereditary breast ovarian cancer syndromePathogenic
(May 16, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr13:32913926
GRCh38:
Chr13:32339789
BRCA2E1812KHereditary cancer-predisposing syndrome, Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2,
Fanconi anemia complementation group D1, Wilms tumor 1, Glioma susceptibility 3,
Medulloblastoma, Malignant tumor of prostate, Pancreatic cancer, susceptibility to, 2
Conflicting interpretations of pathogenicity
(Mar 23, 2023)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr14:35872053
GRCh38:
Chr14:35402847
NFKBIAL187PMalignant tumor of prostateLikely benignno assertion criteria provided
23.
GRCh37:
ChrX:66766289
GRCh38:
ChrX:67546447
ARS434FAndrogen resistance syndrome, Kennedy disease, Malignant tumor of prostate,
Non-obstructive azoospermia
Conflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr22:29108007
GRCh38:
Chr22:28712019
CHEK2Hereditary cancer-predisposing syndrome, Familial cancer of breast, Familial cancer of breast,
Malignant tumor of prostate, Bone osteosarcoma, Li-Fraumeni syndrome 2,
Colorectal cancer
Pathogenic/Likely pathogenic
(Jun 26, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:108173599
GRCh38:
Chr11:108302872
ATMF1780CMalignant tumor of prostate, Ataxia-telangiectasia syndromeUncertain significance
(May 30, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
ChrX:66765148-66765149
GRCh38:
ChrX:67545306-67545307
ARMalignant tumor of prostate, Androgen resistance syndrome, Kennedy disease
Pathogenic
(Jun 2, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
ChrX:66765176
GRCh38:
ChrX:67545334
AR, LOC109504725Q63LKennedy disease, Androgen resistance syndrome, Malignant tumor of prostate
Uncertain significance
(Aug 25, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
ChrX:66909686
GRCh38:
ChrX:67689844
ARMalignant tumor of prostateUncertain significance
(Sep 23, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr22:29106044
GRCh38:
Chr22:28710056
CHEK2P199T, P266T, P309T, P45TFamilial cancer of breast, CHEK2-related condition, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate,
Li-Fraumeni syndrome 2, Colorectal cancer
Uncertain significance
(Dec 8, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:89623475
GRCh38:
Chr10:87863718
PTENMalignant tumor of prostate, Familial meningioma, Glioma susceptibility 2,
Macrocephaly-autism syndrome, Cowden syndrome 1, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Aug 7, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:89725206
GRCh38:
Chr10:87965449
PTENH397Y, H570Y, H200YFamilial meningioma, Glioma susceptibility 2, Cowden syndrome 1,
Macrocephaly-autism syndrome, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome
Uncertain significance
(Nov 25, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrX:66765516
GRCh38:
ChrX:67545674
ARS176RKennedy disease, Hypospadias 1, X-linked, Partial androgen insensitivity syndrome,
Androgen resistance syndrome, Malignant tumor of prostate, not provided,
Androgen resistance syndrome
Benign/Likely benign
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:85623658
GRCh38:
Chr4:84702505
WDFY3G2815VMalignant tumor of prostateLikely pathogenic
(May 28, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr17:47696653
GRCh38:
Chr17:49619291
SPOPR99Wnot providedLikely pathogenic
(Jan 25, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr17:47696655
GRCh38:
Chr17:49619293
SPOPV98DMalignant tumor of prostateUncertain significanceno assertion criteria provided
36.
GRCh37:
Chr17:47696657
GRCh38:
Chr17:49619295
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
37.
GRCh37:
Chr17:47696659
GRCh38:
Chr17:49619297
SPOPE97KMalignant tumor of prostateUncertain significanceno assertion criteria provided
38.
GRCh37:
Chr17:47696660
GRCh38:
Chr17:49619298
SPOPS96fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
39.
GRCh37:
Chr17:47696661
GRCh38:
Chr17:49619299
SPOPS96fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
40.
GRCh37:
Chr17:47696662-47696663
GRCh38:
Chr17:49619300-49619301
SPOPS96fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
41.
GRCh37:
Chr17:47696664
GRCh38:
Chr17:49619302
SPOPK95fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
42.
GRCh37:
Chr17:47696665-47696666
GRCh38:
Chr17:49619303-49619304
SPOPK95fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
43.
GRCh37:
Chr17:47696667
GRCh38:
Chr17:49619305
SPOPP94fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
44.
GRCh37:
Chr17:47696668
GRCh38:
Chr17:49619306
SPOPP94SMalignant tumor of prostateUncertain significanceno assertion criteria provided
45.
GRCh37:
Chr17:47696670
GRCh38:
Chr17:49619308
SPOPC93fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
46.
GRCh37:
Chr17:47696671-47696672
GRCh38:
Chr17:49619309-49619310
SPOPC93fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
47.
GRCh37:
Chr17:47696674
GRCh38:
Chr17:49619312
SPOPS92fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
48.
GRCh37:
Chr17:47696675
GRCh38:
Chr17:49619313
SPOPS92fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
49.
GRCh37:
Chr17:47696675
GRCh38:
Chr17:49619313
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
50.
GRCh37:
Chr17:47696675-47696676
GRCh38:
Chr17:49619313-49619314
SPOPS92fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
51.
GRCh37:
Chr17:47696679
GRCh38:
Chr17:49619317
SPOPL90fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
52.
GRCh37:
Chr17:47696681
GRCh38:
Chr17:49619319
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
53.
GRCh37:
Chr17:47696682
GRCh38:
Chr17:49619320
SPOPL89*Malignant tumor of prostateUncertain significanceno assertion criteria provided
54.
GRCh37:
Chr17:47696682
GRCh38:
Chr17:49619320
SPOPL89fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
55.
GRCh37:
Chr17:47696685
GRCh38:
Chr17:49619323
SPOPL88QMalignant tumor of prostateUncertain significanceno assertion criteria provided
56.
GRCh37:
Chr17:47696688
GRCh38:
Chr17:49619326
SPOPY87fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
57.
GRCh37:
Chr17:47696687-47696688
GRCh38:
Chr17:49619325-49619326
SPOPY87*Malignant tumor of prostateUncertain significanceno assertion criteria provided
58.
GRCh37:
Chr17:47696738
GRCh38:
Chr17:49619376
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
59.
GRCh37:
Chr17:47696739
GRCh38:
Chr17:49619377
SPOPR70PMalignant tumor of prostateUncertain significanceno assertion criteria provided
60.
GRCh37:
Chr17:47696741-47696742
GRCh38:
Chr17:49619379-49619380
SPOPL69fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
61.
GRCh37:
Chr17:47696749
GRCh38:
Chr17:49619387
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
62.
GRCh37:
Chr17:47696748
GRCh38:
Chr17:49619386
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
63.
GRCh37:
Chr17:47696756-47696757
GRCh38:
Chr17:49619394-49619395
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
64.
GRCh37:
Chr17:47696338
GRCh38:
Chr17:49618976
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
65.
GRCh37:
Chr17:47696292
GRCh38:
Chr17:49618930
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
66.
GRCh37:
Chr17:47696304
GRCh38:
Chr17:49618942
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
67.
GRCh37:
Chr17:47696305
GRCh38:
Chr17:49618943
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
68.
GRCh37:
Chr17:47696315
GRCh38:
Chr17:49618953
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
69.
GRCh37:
Chr17:47696326
GRCh38:
Chr17:49618964
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
70.
GRCh37:
Chr17:47695272
GRCh38:
Chr17:49617910
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
71.
GRCh37:
Chr17:47695278
GRCh38:
Chr17:49617916
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
72.
GRCh37:
Chr17:47695284
GRCh38:
Chr17:49617922
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
73.
GRCh37:
Chr17:47696345
GRCh38:
Chr17:49618983
SPOPE160KNeurodevelopmental disorder with microcephaly and dysmorphic faciesPathogenic
(Nov 29, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:47696348
GRCh38:
Chr17:49618986
SPOPC159fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
75.
GRCh37:
Chr17:47696349
GRCh38:
Chr17:49618987
SPOPC159fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
76.
GRCh37:
Chr17:47696349
GRCh38:
Chr17:49618987
SPOPF158LMalignant tumor of prostateUncertain significanceno assertion criteria provided
77.
GRCh37:
Chr17:47696350
GRCh38:
Chr17:49618988
SPOPF158CMalignant tumor of prostateUncertain significanceno assertion criteria provided
78.
GRCh37:
Chr17:47696350
GRCh38:
Chr17:49618988
SPOPF158YMalignant tumor of prostateUncertain significanceno assertion criteria provided
79.
GRCh37:
Chr17:47696351
GRCh38:
Chr17:49618989
SPOPF158LMalignant tumor of prostateUncertain significanceno assertion criteria provided
80.
GRCh37:
Chr17:47696351
GRCh38:
Chr17:49618989
SPOPF158IMalignant tumor of prostateUncertain significanceno assertion criteria provided
81.
GRCh37:
Chr17:47696353
GRCh38:
Chr17:49618991
SPOPL157PMalignant tumor of prostateUncertain significanceno assertion criteria provided
82.
GRCh37:
Chr17:47696407
GRCh38:
Chr17:49619045
SPOPR139fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
83.
GRCh37:
Chr17:47696410
GRCh38:
Chr17:49619048
SPOPR138HMalignant tumor of prostateUncertain significanceno assertion criteria provided
84.
GRCh37:
Chr17:47696415
GRCh38:
Chr17:49619053
SPOPF136LMalignant tumor of prostateUncertain significanceno assertion criteria provided
85.
GRCh37:
Chr17:47696420-47696421
GRCh38:
Chr17:49619058-49619059
SPOPK135fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
86.
GRCh37:
Chr17:47696422
GRCh38:
Chr17:49619060
SPOPK134fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
87.
GRCh37:
Chr17:47696422
GRCh38:
Chr17:49619060
SPOPK134RMalignant tumor of prostateUncertain significanceno assertion criteria provided
88.
GRCh37:
Chr17:47696423
GRCh38:
Chr17:49619061
SPOPK134QMalignant tumor of prostateUncertain significanceno assertion criteria provided
89.
GRCh37:
Chr17:47696424
GRCh38:
Chr17:49619062
SPOPF133fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
90.
GRCh37:
Chr17:47696426
GRCh38:
Chr17:49619064
SPOPF133LMalignant tumor of prostateUncertain significanceno assertion criteria provided
91.
GRCh37:
Chr17:47696435
GRCh38:
Chr17:49619073
SPOPD130YMalignant tumor of prostateUncertain significanceno assertion criteria provided
92.
GRCh37:
Chr17:47696435
GRCh38:
Chr17:49619073
SPOPD130NMalignant tumor of prostateUncertain significanceno assertion criteria provided
93.
GRCh37:
Chr17:47696437
GRCh38:
Chr17:49619075
SPOPK129TMalignant tumor of prostateUncertain significanceno assertion criteria provided
94.
GRCh37:
Chr17:47696439
GRCh38:
Chr17:49619077
SPOPD130fsMalignant tumor of prostateUncertain significanceno assertion criteria provided
95.
GRCh37:
Chr17:47696439
GRCh38:
Chr17:49619077
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
96.
GRCh37:
Chr17:47696439
GRCh38:
Chr17:49619077
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
97.
GRCh37:
Chr17:47696439
GRCh38:
Chr17:49619077
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
98.
GRCh37:
Chr17:47696442
GRCh38:
Chr17:49619080
SPOPMalignant tumor of prostateUncertain significanceno assertion criteria provided
99.
GRCh37:
Chr17:47696446
GRCh38:
Chr17:49619084
SPOPV126GMalignant tumor of prostateUncertain significanceno assertion criteria provided
100.
GRCh37:
Chr17:47696448
GRCh38:
Chr17:49619086
SPOPF125LMalignant tumor of prostateUncertain significanceno assertion criteria provided
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