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Items: 1 to 100 of 643

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
PAHnot providednot providedno assertion provided
2.
PAHnot providednot providedno assertion provided
3.
PAHnot providednot providedno assertion provided
4.
PAHnot providednot providedno assertion provided
5.
PAHnot providednot providedno assertion provided
6.
PAHPhenylketonuriaPathogenic
(Aug 1, 1999)
no assertion criteria provided
7.
PAHPhenylketonuriaPathogenic
(Jul 1, 1991)
no assertion criteria provided
8.
GRCh37:
Chr12:103232178-103232181
GRCh38:
Chr12:102838400-102838403
PAHPhenylketonuriaGMAF:0.00600(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:103232218
GRCh38:
Chr12:102838440
PAHPhenylketonuriaGMAF:0.00140(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr12:103232766
GRCh38:
Chr12:102838988
PAHPhenylketonuriaGMAF:0.29250(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr12:103232874
GRCh38:
Chr12:102839096
PAHPhenylketonuriaGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:103232934
GRCh38:
Chr12:102839156
PAHnot specifiedGMAF:0.00260(A)
GO-ESP:0.00216(A)
Likely benign
(Sep 28, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:103232956-103232960
GRCh38:
Chr12:102839178-102839182
PAHPhenylketonuriaPathogenic
(Feb 2, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr12:103232957
GRCh38:
Chr12:102839179
PAHPhenylketonuria, not providedLikely pathogenic
(Dec 22, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr12:103232972
GRCh38:
Chr12:102839194
PAHnot providedGO-ESP:0.00001(T)not providedno assertion provided
16.
GRCh37:
Chr12:103233001
GRCh38:
Chr12:102839223
PAHnot specified, not providedLikely benign
(Jul 25, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:103233011
GRCh38:
Chr12:102839233
PAHnot providednot providedno assertion provided
18.
GRCh37:
Chr12:103233031
GRCh38:
Chr12:102839253
PAHnot specified, not providedGO-ESP:0.01845(A)
GMAF:0.01060(A)
GO-ESP:0.01625(A)
Benigncriteria provided, single submitter
19.
GRCh37:
Chr12:103234172
GRCh38:
Chr12:102840394
PAHnot providednot providedno assertion provided
20.
GRCh37:
Chr12:103234174
GRCh38:
Chr12:102840396
PAHnot providednot providedno assertion provided
21.
GRCh37:
Chr12:103234176
GRCh38:
Chr12:102840398
PAHPhenylketonuria, not providedLikely pathogenic
(Mar 18, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr12:103234177
GRCh38:
Chr12:102840399
PAHPhenylketonuriaLikely pathogenic
(Nov 27, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr12:103234177
GRCh38:
Chr12:102840399
PAHPhenylketonuria, not providedGO-ESP:0.00077(T)
GO-ESP:0.00035(T)
Pathogenic
(Oct 20, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr12:103234192
GRCh38:
Chr12:102840414
PAHPhenylketonuria, not providedLikely pathogenic
(Oct 13, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr12:103234195
GRCh38:
Chr12:102840417
PAHPhenylketonuriaLikely pathogenic
(Dec 31, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr12:103234204
GRCh38:
Chr12:102840426
PAHnot providednot providedno assertion provided
27.
GRCh37:
Chr12:103234207
GRCh38:
Chr12:102840429
PAHnot specifiedUncertain significance
(Sep 29, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr12:103234211
GRCh38:
Chr12:102840433
PAHPhenylketonuriaGMAF:0.00020(C)Likely pathogenic
(Oct 5, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr12:103234215
GRCh38:
Chr12:102840437
PAHPhenylketonuria, not specified, not provided
GO-ESP:0.04652(G)
GMAF:0.04650(G)
GO-ESP:0.01362(G)
Benign/Likely benign, not provided
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:103234222
GRCh38:
Chr12:102840444
PAHnot providednot providedno assertion provided
31.
GRCh37:
Chr12:103234229
GRCh38:
Chr12:102840451
PAHnot providednot providedno assertion provided
32.
GRCh37:
Chr12:103234231
GRCh38:
Chr12:102840453
PAHnot providedGO-ESP:0.00001(G)not providedno assertion provided
33.
GRCh37:
Chr12:103234241
GRCh38:
Chr12:102840463
PAHnot providednot providedno assertion provided
34.
GRCh37:
Chr12:103234244
GRCh38:
Chr12:102840466
PAHnot providednot providedno assertion provided
35.
GRCh37:
Chr12:103234244
GRCh38:
Chr12:102840466
PAHnot providednot providedno assertion provided
36.
GRCh37:
Chr12:103234250
GRCh38:
Chr12:102840472
PAHPhenylketonuria, Hyperphenylalaninemia, non-pku, not provided
GO-ESP:0.00006(T)Pathogenic
(Jun 13, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:103234251
GRCh38:
Chr12:102840473
PAHnot specified, not providedGO-ESP:0.00992(A)
GMAF:0.00280(A)
GO-ESP:0.00799(A)
Benign/Likely benign, not provided
(Feb 15, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr12:103234252
GRCh38:
Chr12:102840474
PAHPhenylketonuria, Hyperphenylalaninemia, non-pku, not provided
GO-ESP:0.00031(C)
GMAF:0.00020(C)
GO-ESP:0.00049(C)
Pathogenic
(Nov 30, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:103234253
GRCh38:
Chr12:102840475
PAHPhenylketonuriaGO-ESP:0.00001(G)Likely pathogenicno assertion criteria provided
40.
GRCh37:
Chr12:103234255
GRCh38:
Chr12:102840477
PAHPhenylketonuria, not providedGMAF:0.00060(T)Pathogenic
(Dec 19, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:103234256
GRCh38:
Chr12:102840478
PAHnot providedGO-ESP:0.00003(A)not providedno assertion provided
42.
GRCh37:
Chr12:103234256
GRCh38:
Chr12:102840478
PAHnot providednot providedno assertion provided
43.
GRCh37:
Chr12:103234261
GRCh38:
Chr12:102840483
PAHnot providednot providedno assertion provided
44.
GRCh37:
Chr12:103234264
GRCh38:
Chr12:102840486
PAHnot providednot providedno assertion provided
45.
GRCh37:
Chr12:103234264
GRCh38:
Chr12:102840486
PAHnot providednot providedno assertion provided
46.
GRCh37:
Chr12:103234270
GRCh38:
Chr12:102840492
PAHPhenylketonuria, not providedGMAF:0.00020(T)
GO-ESP:0.00005(T)
Pathogenic
(Mar 15, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr12:103234271
GRCh38:
Chr12:102840493
PAHPhenylketonuria, not providedGO-ESP:0.00115(A)
GMAF:0.00040(A)
GO-ESP:0.00066(A)
Pathogenic
(Oct 20, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr12:103234273
GRCh38:
Chr12:102840495
PAHnot providednot providedno assertion provided
49.
GRCh37:
Chr12:103234273
GRCh38:
Chr12:102840495
PAHPhenylketonuria, not providedPathogenic
(Jan 1, 1999)
no assertion criteria provided
50.
GRCh37:
Chr12:103234274
GRCh38:
Chr12:102840496
PAHnot providednot providedno assertion provided
51.
GRCh37:
Chr12:103234276
GRCh38:
Chr12:102840498
PAHnot providednot providedno assertion provided
52.
GRCh37:
Chr12:103234283
GRCh38:
Chr12:102840505
PAHnot specifiedUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr12:103234285
GRCh38:
Chr12:102840507
PAHPhenylketonuria, not providedGO-ESP:0.00038(A)
GMAF:0.00060(A)
GO-ESP:0.00054(A)
Pathogenic
(Jun 19, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:103234289
GRCh38:
Chr12:102840511
PAHnot providednot providedno assertion provided
55.
GRCh37:
Chr12:103234294
GRCh38:
Chr12:102840516
PAHnot providednot providedno assertion provided
56.
GRCh37:
Chr12:103234294
GRCh38:
Chr12:102840516
PAHPhenylketonuria, not providedPathogenic
(Jul 27, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr12:103234301
GRCh38:
Chr12:102840523
PAHnot providednot providedno assertion provided
58.
GRCh37:
Chr12:103237354
GRCh38:
Chr12:102843576
PAHPhenylketonuriaGMAF:0.00020(T)Likely benignno assertion criteria provided
59.
GRCh37:
Chr12:103237404
GRCh38:
Chr12:102843626
PAHnot providednot providedno assertion provided
60.
GRCh37:
Chr12:103237407
GRCh38:
Chr12:102843629
PAHPhenylketonuria, not providedLikely pathogenic
(Apr 29, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr12:103237419
GRCh38:
Chr12:102843641
PAHnot providednot providedno assertion provided
62.
GRCh37:
Chr12:103237422
GRCh38:
Chr12:102843644
PAHnot providednot providedno assertion provided
63.
GRCh37:
Chr12:103237423
GRCh38:
Chr12:102843645
PAHPhenylketonuria, not providedPathogenic/Likely pathogenic, not provided
(Sep 3, 2015)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:103237423
GRCh38:
Chr12:102843645
PAHnot providednot providedno assertion provided
65.
GRCh37:
Chr12:103237424
GRCh38:
Chr12:102843646
PAHnot providednot providedno assertion provided
66.
GRCh37:
Chr12:103237424
GRCh38:
Chr12:102843646
PAHnot providednot providedno assertion provided
67.
GRCh37:
Chr12:103237424-103237427
GRCh38:
Chr12:102843646-102843649
PAHnot providednot providedno assertion provided
68.
GRCh37:
Chr12:103237425
GRCh38:
Chr12:102843647
PAHnot providednot providedno assertion provided
69.
GRCh37:
Chr12:103237425
GRCh38:
Chr12:102843647
PAHnot specified, not providedGO-ESP:0.00001(G)Uncertain significance
(Sep 29, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr12:103237426
GRCh38:
Chr12:102843648
PAHPhenylketonuria, not providedPathogenic
(Jan 1, 2001)
no assertion criteria provided
71.
GRCh37:
Chr12:103237427
GRCh38:
Chr12:102843649
PAHPhenylketonuriaLikely pathogenicno assertion criteria provided
72.
GRCh37:
Chr12:103237429
GRCh38:
Chr12:102843651
PAHnot providednot providedno assertion provided
73.
GRCh37:
Chr12:103237439
GRCh38:
Chr12:102843661
PAHPhenylketonuria, not providedGO-ESP:0.00008(C)
GO-ESP:0.00001(C)
Likely pathogenic
(Jul 18, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:103237439
GRCh38:
Chr12:102843661
PAHnot providednot providedno assertion provided
75.
GRCh37:
Chr12:103237440
GRCh38:
Chr12:102843662
PAHnot providedGO-ESP:0.00002(G)not providedno assertion provided
76.
GRCh37:
Chr12:103237442
GRCh38:
Chr12:102843664
PAHnot providednot providedno assertion provided
77.
GRCh37:
Chr12:103237443
GRCh38:
Chr12:102843665
PAHPhenylketonuriaLikely pathogenicno assertion criteria provided
78.
GRCh37:
Chr12:103237443
GRCh38:
Chr12:102843665
PAHnot providednot providedno assertion provided
79.
GRCh37:
Chr12:103237448
GRCh38:
Chr12:102843670
PAHnot providednot providedno assertion provided
80.
GRCh37:
Chr12:103237451
GRCh38:
Chr12:102843673
PAHPhenylketonuriaLikely pathogenic
(Oct 1, 2013)
no assertion criteria provided
81.
GRCh37:
Chr12:103237452
GRCh38:
Chr12:102843674
PAHPhenylketonuriaLikely pathogenicno assertion criteria provided
82.
GRCh37:
Chr12:103237454
GRCh38:
Chr12:102843676
PAHPhenylketonuria, Hyperphenylalaninemia, non-pku, not provided
GO-ESP:0.00008(C)
GO-ESP:0.00010(C)
Pathogenic/Likely pathogenic, not provided
(Oct 27, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:103237457
GRCh38:
Chr12:102843679
PAHnot providednot providedno assertion provided
84.
GRCh37:
Chr12:103237459-103237460
GRCh38:
Chr12:102843681-102843682
PAHnot providednot providedno assertion provided
85.
GRCh37:
Chr12:103237460
GRCh38:
Chr12:102843682
PAHPhenylketonuriaLikely pathogenicno assertion criteria provided
86.
GRCh37:
Chr12:103237461
GRCh38:
Chr12:102843683
PAHnot providednot providedno assertion provided
87.
GRCh37:
Chr12:103237461
GRCh38:
Chr12:102843683
PAHPhenylketonuria, not providedGO-ESP:0.00008(T)
GO-ESP:0.00007(T)
Pathogenic
(Sep 9, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:103237464
GRCh38:
Chr12:102843686
PAHnot providednot providedno assertion provided
89.
GRCh37:
Chr12:103237466
GRCh38:
Chr12:102843688
PAHPhenylketonuria, not providedGO-ESP:0.00008(C)Pathogenic/Likely pathogenic, not provided
(May 26, 2015)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:103237467
GRCh38:
Chr12:102843689
PAHnot specifiedUncertain significance
(Sep 29, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr12:103237467
GRCh38:
Chr12:102843689
PAHnot providednot providedno assertion provided
92.
GRCh37:
Chr12:103237468
GRCh38:
Chr12:102843690
PAHnot specifiedGO-ESP:0.82716(C)
GMAF:0.15970(G)
Benign
(Apr 10, 2014)
no assertion criteria provided
93.
GRCh37:
Chr12:103237468
GRCh38:
Chr12:102843690
PAHnot providedGMAF:0.15970(G)
GO-ESP:0.14162(G)
not providedno assertion provided
94.
GRCh37:
Chr12:103237471
GRCh38:
Chr12:102843693
PAHPhenylketonuriaLikely benignno assertion criteria provided
95.
GRCh37:
Chr12:103237476
GRCh38:
Chr12:102843698
PAHPhenylketonuriaLikely pathogenic
(Mar 24, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr12:103237484
GRCh38:
Chr12:102843706
PAHPhenylketonuria, Hyperphenylalaninemia, non-pku, not provided
GO-ESP:0.00046(A)
GMAF:0.00020(A)
GO-ESP:0.00033(A)
Pathogenic/Likely pathogenic, not provided
(Aug 8, 2016)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:103237491
GRCh38:
Chr12:102843713
PAHnot providednot providedno assertion provided
98.
GRCh37:
Chr12:103237493
GRCh38:
Chr12:102843715
PAHnot providednot providedno assertion provided
99.
GRCh37:
Chr12:103237494
GRCh38:
Chr12:102843716
PAHPhenylketonuria, not providedPathogenic
(Nov 1, 1997)
no assertion criteria provided
100.
GRCh37:
Chr12:103237496
GRCh38:
Chr12:102843718
PAHnot providednot providedno assertion provided
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