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Items: 1 to 100 of 172

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
DPYDDihydropyrimidine dehydrogenase deficiencyPathogenic
(Aug 1, 1997)
no assertion criteria provided
2.
DPYDDihydropyrimidine dehydrogenase deficiencyPathogenic
(Jun 1, 2009)
no assertion criteria provided
3.
GRCh37:
Chr1:97543486
GRCh38:
Chr1:97077930
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:97543571
GRCh38:
Chr1:97078015
DPYDnot providednot providedno assertion provided
5.
GRCh37:
Chr1:97543621
GRCh38:
Chr1:97078065
DPYDnot providednot providedno assertion provided
6.
GRCh37:
Chr1:97543632
GRCh38:
Chr1:97078076
DPYDDihydropyrimidine dehydrogenase deficiency, not providedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:97543680
GRCh38:
Chr1:97078124
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:97543749
GRCh38:
Chr1:97078193
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:97543752
GRCh38:
Chr1:97078196
DPYDDihydropyrimidine dehydrogenase deficiency, not providedLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:97543764
GRCh38:
Chr1:97078208
DPYDDihydropyrimidine dehydrogenase deficiency, not providedBenign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:97543796
GRCh38:
Chr1:97078240
DPYDnot providednot providedno assertion provided
12.
GRCh37:
Chr1:97543867
GRCh38:
Chr1:97078311
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:97543946
GRCh38:
Chr1:97078390
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:97543959
GRCh38:
Chr1:97078403
DPYDDihydropyrimidine dehydrogenase deficiency, not providedLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:97544100
GRCh38:
Chr1:97078544
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:97544250
GRCh38:
Chr1:97078694
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:97544258
GRCh38:
Chr1:97078702
DPYDDihydropyrimidine dehydrogenase deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:97544290
GRCh38:
Chr1:97078734
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:97544339
GRCh38:
Chr1:97078783
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:97544359
GRCh38:
Chr1:97078803
DPYDnot providednot providedno assertion provided
21.
GRCh37:
Chr1:97544543
GRCh38:
Chr1:97078987
DPYDnot providednot providedno assertion provided
22.
GRCh37:
Chr1:97544623
GRCh38:
Chr1:97079067
DPYDnot providednot providedno assertion provided
23.
GRCh37:
Chr1:97544689
GRCh38:
Chr1:97079133
DPYDFluorouracil responsePathogenic
(Jan 1, 1997)
no assertion criteria provided
24.
GRCh37:
Chr1:97547947
GRCh38:
Chr1:97082391
DPYDDihydropyrimidine dehydrogenase deficiency, Fluorouracil response, not provided,
capecitabine response - Toxicity/ADR, fluorouracil response - Toxicity/ADR, tegafur response - Toxicity/ADR,
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK, capecitabine response - Toxicity/ADR, Metabolism/PK, fluorouracil response - Toxicity/ADR, Metabolism/PK,
tegafur response - Toxicity/ADR, Metabolism/PK
drug responsereviewed by expert panel
25.
GRCh37:
Chr1:97548027
GRCh38:
Chr1:97082471
DPYDnot providedLikely pathogenic
(Nov 11, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr1:97564026
GRCh38:
Chr1:97098470
DPYD, DPYD-AS1not providednot providedno assertion provided
27.
GRCh37:
Chr1:97564053
GRCh38:
Chr1:97098497
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr1:97564057
GRCh38:
Chr1:97098501
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(May 23, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:97564063
GRCh38:
Chr1:97098507
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Sep 13, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr1:97564131
GRCh38:
Chr1:97098575
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(May 16, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr1:97564154
GRCh38:
Chr1:97098598
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyPathogenic
(Dec 1, 1997)
no assertion criteria provided
32.
GRCh37:
Chr1:97564179
GRCh38:
Chr1:97098623
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:97658624
GRCh38:
Chr1:97193068
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Jul 29, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr1:97658649
GRCh38:
Chr1:97193093
DPYD, DPYD-AS1not providednot providedno assertion provided
35.
GRCh37:
Chr1:97658658
GRCh38:
Chr1:97193102
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Oct 7, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:97658693
GRCh38:
Chr1:97193137
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Sep 26, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:97658715
GRCh38:
Chr1:97193159
DPYD, DPYD-AS1not providednot providedno assertion provided
38.
GRCh37:
Chr1:97658719
GRCh38:
Chr1:97193163
DPYD, DPYD-AS1not specifiedUncertain significance
(Aug 17, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr1:97658722
GRCh38:
Chr1:97193166
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr1:97700512-97700515
GRCh38:
Chr1:97234956-97234959
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Feb 12, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:97700521
GRCh38:
Chr1:97234965
DPYD, DPYD-AS1not providednot providedno assertion provided
42.
GRCh37:
Chr1:97700547
GRCh38:
Chr1:97234991
DPYD, DPYD-AS1not specifiedUncertain significance
(Apr 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr1:97700549
GRCh38:
Chr1:97234993
DPYD, DPYD-AS1not providednot providedno assertion provided
44.
GRCh37:
Chr1:97700589
GRCh38:
Chr1:97235033
DPYD, DPYD-AS1not providednot providedno assertion provided
45.
GRCh37:
Chr1:97700590
GRCh38:
Chr1:97235034
DPYD, DPYD-AS1not providednot providedno assertion provided
46.
GRCh37:
Chr1:97700659
GRCh38:
Chr1:97235103
DPYD, DPYD-AS1not providednot providedno assertion provided
47.
GRCh37:
Chr1:97770715
GRCh38:
Chr1:97305159
DPYD, DPYD-AS1not providednot providedno assertion provided
48.
GRCh37:
Chr1:97770827-97770828
GRCh38:
Chr1:97305271-97305272
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(May 3, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:97770839
GRCh38:
Chr1:97305283
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Apr 6, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:97770920
GRCh38:
Chr1:97305364
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiency, not specified, not provided
Benign/Likely benign
(Jun 16, 2017)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:97770921
GRCh38:
Chr1:97305365
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:97770928
GRCh38:
Chr1:97305372
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:97770945
GRCh38:
Chr1:97305389
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr1:97770978
GRCh38:
Chr1:97305422
DPYD, DPYD-AS1not providednot providedno assertion provided
55.
GRCh37:
Chr1:97771751
GRCh38:
Chr1:97306195
DPYD, DPYD-AS1not providednot providedno assertion provided
56.
GRCh37:
Chr1:97771777
GRCh38:
Chr1:97306221
DPYD, DPYD-AS1not providedLikely pathogenic
(Feb 10, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr1:97771841
GRCh38:
Chr1:97306285
DPYD, DPYD-AS1Dihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr1:97839075
GRCh38:
Chr1:97373519
DPYDnot providednot providedno assertion provided
59.
GRCh37:
Chr1:97839116
GRCh38:
Chr1:97373560
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(May 13, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr1:97839117-97839132
GRCh38:
Chr1:97373561-97373576
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Jul 9, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr1:97839126
GRCh38:
Chr1:97373570
DPYDnot providednot providedno assertion provided
62.
GRCh37:
Chr1:97839136
GRCh38:
Chr1:97373580
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Oct 26, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr1:97839172
GRCh38:
Chr1:97373616
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Jul 18, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:97847874
GRCh38:
Chr1:97382318
DPYDnot providednot providedno assertion provided
65.
GRCh37:
Chr1:97847948
GRCh38:
Chr1:97382392
DPYDnot specifiedUncertain significance
(Jul 24, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr1:97847953
GRCh38:
Chr1:97382397
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Mar 29, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr1:97915614
GRCh38:
Chr1:97450058
DPYDPyrimidine analogues response - Toxicity/ADR, Metabolism/PK, capecitabine response - Toxicity/ADR, Metabolism/PK, fluorouracil response - Toxicity/ADR, Metabolism/PK,
tegafur response - Toxicity/ADR, Metabolism/PK
drug responsereviewed by expert panel
68.
GRCh37:
Chr1:97915614
GRCh38:
Chr1:97450058
DPYDDihydropyrimidine dehydrogenase deficiency, Hirschsprung disease 1, Fluorouracil response,
not provided, Pyrimidine analogues response - Toxicity/ADR, capecitabine response - Toxicity/ADR,
fluorouracil response - Toxicity/ADR, tegafur response - Toxicity/ADR
drug responsereviewed by expert panel
69.
GRCh37:
Chr1:97915615
GRCh38:
Chr1:97450059
DPYDnot providednot providedno assertion provided
70.
GRCh37:
Chr1:97915624
GRCh38:
Chr1:97450068
DPYDDihydropyrimidine dehydrogenase deficiency, not specified, not provided
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:97915657
GRCh38:
Chr1:97450101
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Jan 7, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr1:97915689
GRCh38:
Chr1:97450133
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Mar 18, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr1:97915746
GRCh38:
Chr1:97450190
DPYDnot specifiedUncertain significance
(Aug 30, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr1:97915844
GRCh38:
Chr1:97450288
DPYDnot providednot providedno assertion provided
75.
GRCh37:
Chr1:97981242
GRCh38:
Chr1:97515686
DPYDnot providednot providedno assertion provided
76.
GRCh37:
Chr1:97981243
GRCh38:
Chr1:97515687
DPYDnot providednot providedno assertion provided
77.
GRCh37:
Chr1:97981295
GRCh38:
Chr1:97515739
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr1:97981341
GRCh38:
Chr1:97515785
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr1:97981343
GRCh38:
Chr1:97515787
DPYDDihydropyrimidine dehydrogenase deficiency, not provided, Pyrimidine analogues response - Toxicity/ADR,
capecitabine response - Toxicity/ADR, fluorouracil response - Toxicity/ADR, tegafur response - Toxicity/ADR
drug responsereviewed by expert panel
80.
GRCh37:
Chr1:97981351
GRCh38:
Chr1:97515795
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Jul 5, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr1:97981371
GRCh38:
Chr1:97515815
DPYDDihydropyrimidine dehydrogenase deficiency, not specifiedUncertain significance
(Sep 21, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:97981395
GRCh38:
Chr1:97515839
DPYDDihydropyrimidine dehydrogenase deficiency, not specified, not provided
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:97981407
GRCh38:
Chr1:97515851
DPYDnot providednot providedno assertion provided
84.
GRCh37:
Chr1:97981408
GRCh38:
Chr1:97515852
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr1:97981421
GRCh38:
Chr1:97515865
DPYDnot specified, not providedConflicting interpretations of pathogenicity
(Jan 31, 2017)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr1:97981442
GRCh38:
Chr1:97515886
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr1:97981467
GRCh38:
Chr1:97515911
DPYDnot providednot providedno assertion provided
88.
GRCh37:
Chr1:97981484
GRCh38:
Chr1:97515928
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr1:97981506
GRCh38:
Chr1:97515950
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr1:97981508
GRCh38:
Chr1:97515952
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr1:98015100
GRCh38:
Chr1:97549544
DPYDnot specified, not providedLikely benigncriteria provided, single submitter
92.
GRCh37:
Chr1:98015115
GRCh38:
Chr1:97549559
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Aug 9, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:98015122
GRCh38:
Chr1:97549566
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Mar 3, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr1:98015165
GRCh38:
Chr1:97549609
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr1:98015261
GRCh38:
Chr1:97549705
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr1:98015269
GRCh38:
Chr1:97549713
DPYDnot providednot providedno assertion provided
97.
GRCh37:
Chr1:98015282
GRCh38:
Chr1:97549726
DPYDnot providednot providedno assertion provided
98.
GRCh37:
Chr1:98015291
GRCh38:
Chr1:97549735
DPYDDihydropyrimidine dehydrogenase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr1:98015302
GRCh38:
Chr1:97549746
DPYDDihydropyrimidine dehydrogenase deficiencyLikely pathogenic
(Mar 29, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr1:98015303
GRCh38:
Chr1:97549747
DPYDMalignant tumor of prostateUncertain significanceno assertion criteria provided
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