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Items: 1 to 100 of 114

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:80445219
GRCh38:
Chr15:80152877
FAHHypertyrosinemiaGMAF:0.18670(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr15:80445292
GRCh38:
Chr15:80152950
FAHHypertyrosinemiaGMAF:0.18650(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr15:80445330
GRCh38:
Chr15:80152988
FAHHypertyrosinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr15:80445334
GRCh38:
Chr15:80152992
FAHHypertyrosinemiaGMAF:0.00040(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr15:80445354
GRCh38:
Chr15:80153012
FAHHypertyrosinemiaGMAF:0.00020(T)
GO-ESP:0.00019(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr15:80445363
GRCh38:
Chr15:80153021
FAHnot specified, HypertyrosinemiaGMAF:0.00300(T)
GO-ESP:0.01208(T)
Conflicting interpretations of pathogenicity
(Aug 16, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr15:80445374
GRCh38:
Chr15:80153032
FAHHypertyrosinemiaGMAF:0.00020(C)
GO-ESP:0.00015(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr15:80445397
GRCh38:
Chr15:80153055
FAHnot providedPathogenic
(Dec 7, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr15:80445398
GRCh38:
Chr15:80153056
FAHTyrosinemia type ILikely pathogenic
(Jun 3, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:80445410
GRCh38:
Chr15:80153068
FAHTyrosinemia type ILikely pathogenic
(Oct 11, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr15:80445443
GRCh38:
Chr15:80153101
FAHTyrosinemia type IGO-ESP:0.00003(T)Pathogenic
(Oct 1, 1992)
no assertion criteria provided
12.
GRCh37:
Chr15:80445479
GRCh38:
Chr15:80153137
FAHTyrosinemia type IGO-ESP:0.00002(A)Uncertain significance
(Sep 1, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr15:80445479
GRCh38:
Chr15:80153137
FAHTyrosinemia type ILikely pathogenic
(May 27, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr15:80445485
GRCh38:
Chr15:80153143
FAHHypertyrosinemiaGMAF:0.00060(A)
GO-ESP:0.00004(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr15:80445489
GRCh38:
Chr15:80153147
FAHHypertyrosinemiaGO-ESP:0.00059(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr15:80445515
GRCh38:
Chr15:80153173
FAHnot specifiedBenigncriteria provided, single submitter
17.
GRCh37:
Chr15:80450383
GRCh38:
Chr15:80158041
FAHnot specifiedBenign
(Mar 8, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr15:80450389
GRCh38:
Chr15:80158047
FAHnot specified, HypertyrosinemiaGO-ESP:0.44633(A)
GMAF:0.49320(G)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:80450410
GRCh38:
Chr15:80158068
FAHHypertyrosinemiaGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr15:80450429
GRCh38:
Chr15:80158087
FAHHypertyrosinemiaGO-ESP:0.00002(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr15:80450453
GRCh38:
Chr15:80158111
FAHnot specifiedGO-ESP:0.00001(G)Uncertain significance
(Sep 7, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr15:80450459
GRCh38:
Chr15:80158117
FAHHypertyrosinemiaGMAF:0.00840(G)
GO-ESP:0.00199(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr15:80450467
GRCh38:
Chr15:80158125
FAHHypertyrosinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr15:80450485
GRCh38:
Chr15:80158143
FAHnot specifiedBenign
(Oct 18, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr15:80450487
GRCh38:
Chr15:80158145
FAHHypertyrosinemiaGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr15:80450512
GRCh38:
Chr15:80158170
FAHTyrosinemia type I, not providedGO-ESP:0.00007(T)Pathogenic
(Dec 21, 2015)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr15:80450513
GRCh38:
Chr15:80158171
FAHTyrosinemia type ILikely pathogenic
(Dec 10, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr15:80452075
GRCh38:
Chr15:80159733
FAHnot specifiedGMAF:0.36700(T)Benigncriteria provided, single submitter
29.
GRCh37:
Chr15:80452148
GRCh38:
Chr15:80159806
FAHnot specified, HypertyrosinemiaGMAF:0.00020(A)
GO-ESP:0.00031(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr15:80452154
GRCh38:
Chr15:80159812
FAHHypertyrosinemiaGMAF:0.00060(A)
GO-ESP:0.00022(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr15:80452172
GRCh38:
Chr15:80159830
FAHnot specified, HypertyrosinemiaGO-ESP:0.08219(C)
GMAF:0.05970(C)
GO-ESP:0.07482(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:80452196
GRCh38:
Chr15:80159854
FAHHypertyrosinemiaGO-ESP:0.00003(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr15:80452201
GRCh38:
Chr15:80159859
FAHHypertyrosinemiaGMAF:0.00080(G)
GO-ESP:0.00078(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr15:80452207
GRCh38:
Chr15:80159865
FAHnot specifiedGO-ESP:0.00011(G)Uncertain significance
(Jun 20, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:80452220
GRCh38:
Chr15:80159878
FAHTyrosinemia type ILikely pathogenic
(Jan 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr15:80452268
GRCh38:
Chr15:80159926
FAHnot specifiedGMAF:0.35960(G)Benigncriteria provided, single submitter
37.
GRCh37:
Chr15:80452738
GRCh38:
Chr15:80160396
FAHnot specifiedLikely benign
(Sep 27, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr15:80454624
GRCh38:
Chr15:80162282
FAHTyrosinemia type IGO-ESP:0.00001(A)Pathogenic
(Jul 1, 1993)
no assertion criteria provided
39.
GRCh37:
Chr15:80454635
GRCh38:
Chr15:80162293
FAHnot specifiedGMAF:0.00040(A)
GO-ESP:0.00005(A)
Uncertain significance
(Aug 12, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr15:80454661
GRCh38:
Chr15:80162319
FAHTyrosinemia type IGO-ESP:0.00001(-)Likely pathogenic
(Jan 8, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr15:80454678
GRCh38:
Chr15:80162336
FAHTyrosinemia type ILikely pathogenic
(Mar 22, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr15:80454707
GRCh38:
Chr15:80162365
FAHnot specifiedGMAF:0.08930(A)
GO-ESP:0.04783(A)
Benigncriteria provided, single submitter
43.
GRCh37:
Chr15:80460374
GRCh38:
Chr15:80168032
FAHnot specifiedBenign
(Apr 12, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr15:80460394
GRCh38:
Chr15:80168052
FAHTyrosinemia type I, not providedGO-ESP:0.00008(A)
GO-ESP:0.00003(A)
Pathogenic
(Jun 26, 2013)
criteria provided, single submitter
45.
GRCh37:
Chr15:80460399-80460429
GRCh38:
Chr15:80168057-80168087
FAHTyrosinemia type ILikely pathogenic
(Mar 22, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr15:80460421
GRCh38:
Chr15:80168079
FAHnot specifiedBenign
(Nov 2, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr15:80460430
GRCh38:
Chr15:80168088
FAHTyrosinemia type ILikely pathogenic
(Aug 4, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr15:80460458
GRCh38:
Chr15:80168116
FAHTyrosinemia type I, not providedGO-ESP:0.00001(T)Pathogenic/Likely pathogenic
(Nov 3, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:80460501
GRCh38:
Chr15:80168159
FAHnot specifiedLikely benign
(Apr 22, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr15:80460524
GRCh38:
Chr15:80168182
FAHnot specifiedGMAF:0.22130(A)Benigncriteria provided, single submitter
51.
GRCh37:
Chr15:80460586
GRCh38:
Chr15:80168244
FAHnot specifiedLikely benign
(Sep 30, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr15:80460605
GRCh38:
Chr15:80168263
FAHTyrosinemia type I, not provided, Hypertyrosinemia
GO-ESP:0.00023(T)
GO-ESP:0.00011(T)
Pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:80460619
GRCh38:
Chr15:80168277
FAHHypertyrosinemiaGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr15:80464485
GRCh38:
Chr15:80172143
FAHTyrosinemia type IPathogenic
(Aug 25, 2011)
no assertion criteria provided
55.
GRCh37:
Chr15:80464490
GRCh38:
Chr15:80172148
FAHTyrosinemia type IGO-ESP:0.00001(A)Likely pathogenic
(Apr 9, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr15:80464499
GRCh38:
Chr15:80172157
FAHTyrosinemia type ILikely pathogenic
(Jul 26, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr15:80464580
GRCh38:
Chr15:80172238
FAHnot specifiedGO-ESP:0.00001(A)Uncertain significance
(Apr 21, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr15:80464582
GRCh38:
Chr15:80172240
FAHTyrosinemia type IPathogenic
(Aug 25, 2011)
no assertion criteria provided
59.
GRCh37:
Chr15:80464599
GRCh38:
Chr15:80172257
FAHnot specifiedLikely benign
(Jun 9, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr15:80465364
GRCh38:
Chr15:80173022
FAHnot specifiedGMAF:0.00020(T)
GO-ESP:0.00067(T)
Uncertain significance
(Aug 31, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr15:80465393
GRCh38:
Chr15:80173051
FAHTyrosinemia type ILikely pathogenic
(Jan 5, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr15:80465396
GRCh38:
Chr15:80173054
FAHHypertyrosinemiaGMAF:0.00080(G)
GO-ESP:0.00013(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr15:80465429-80465430
GRCh38:
Chr15:80173087-80173088
FAHTyrosinemia type ILikely pathogenic
(Nov 7, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr15:80465431
GRCh38:
Chr15:80173089
FAHTyrosinemia type I, not providedGO-ESP:0.00008(T)
GO-ESP:0.00013(T)
Pathogenic/Likely pathogenic
(Sep 15, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:80465435
GRCh38:
Chr15:80173093
FAHTyrosinemia type IGO-ESP:0.00010(A)Pathogenic
(Dec 21, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr15:80465480
GRCh38:
Chr15:80173138
FAHnot specifiedGO-ESP:0.00030(A)Uncertain significance
(Sep 9, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr15:80465485
GRCh38:
Chr15:80173143
FAHTyrosinemia type IPathogenic
(Dec 1, 2000)
no assertion criteria provided
68.
GRCh37:
Chr15:80467361
GRCh38:
Chr15:80175019
FAHHypertyrosinemiaGO-ESP:0.00009(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr15:80467375
GRCh38:
Chr15:80175033
FAHHypertyrosinemiaGMAF:0.01120(A)
GO-ESP:0.00269(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr15:80467390
GRCh38:
Chr15:80175048
FAHnot specifiedLikely benign
(Apr 8, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr15:80469886
GRCh38:
Chr15:80177544
FAHnot specified, HypertyrosinemiaGMAF:0.01060(G)
GO-ESP:0.00409(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:80469926
GRCh38:
Chr15:80177584
FAHTyrosinemia type ILikely pathogenic
(Sep 2, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr15:80472431
GRCh38:
Chr15:80180089
FAHnot specifiedGMAF:0.32970(C)Benigncriteria provided, single submitter
74.
GRCh37:
Chr15:80472449
GRCh38:
Chr15:80180107
FAHnot specifiedLikely benign
(Feb 8, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr15:80472451
GRCh38:
Chr15:80180109
FAHnot specifiedLikely benign
(Aug 30, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr15:80472468
GRCh38:
Chr15:80180126
FAHTyrosinemia type IPathogenic
(Aug 30, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr15:80472480
GRCh38:
Chr15:80180138
FAHnot specifiedLikely benign
(Mar 11, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr15:80472514
GRCh38:
Chr15:80180172
FAHTyrosinemia type IGO-ESP:0.00008(A)
GO-ESP:0.00012(A)
Pathogenic/Likely pathogenic
(Dec 24, 2014)
criteria provided, single submitter
79.
GRCh37:
Chr15:80472526
GRCh38:
Chr15:80180184
FAHFumarylacetoacetase pseudodeficiency, Tyrosinemia type I, not provided
GO-ESP:0.01630(T)
GMAF:0.00800(T)
GO-ESP:0.01681(T)
Pathogenic, other
(May 6, 2015)
criteria provided, single submitter
80.
GRCh37:
Chr15:80472531
GRCh38:
Chr15:80180189
FAHnot specifiedLikely benign
(Jul 26, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr15:80472561
GRCh38:
Chr15:80180219
FAHnot specified, HypertyrosinemiaGMAF:0.05990(T)
GO-ESP:0.05868(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr15:80472567
GRCh38:
Chr15:80180225
FAHnot specifiedLikely benign
(Dec 7, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr15:80472572
GRCh38:
Chr15:80180230
FAHTyrosinemia type I, not provided, Hypertyrosinemia
GO-ESP:0.00046(A)
GMAF:0.00040(A)
GO-ESP:0.00042(A)
Pathogenic
(Sep 15, 2016)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr15:80473390
GRCh38:
Chr15:80181048
FAHTyrosinemia type IGO-ESP:0.00003(T)Pathogenic/Likely pathogenic
(Dec 18, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr15:80473400
GRCh38:
Chr15:80181058
FAHnot specifiedGO-ESP:0.00001(A)Uncertain significance
(Jun 30, 2015)
criteria provided, single submitter
86.
GRCh37:
Chr15:80473411
GRCh38:
Chr15:80181069
FAHTyrosinemia type IGO-ESP:0.00008(T)
GO-ESP:0.00003(T)
Pathogenic
(Jan 1, 1993)
no assertion criteria provided
87.
GRCh37:
Chr15:80473462
GRCh38:
Chr15:80181120
FAHTyrosinemia type IPathogenic
(Feb 1, 1995)
no assertion criteria provided
88.
GRCh37:
Chr15:80473473
GRCh38:
Chr15:80181131
FAHHypertyrosinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr15:80473505
GRCh38:
Chr15:80181163
FAHnot specified, HypertyrosinemiaGMAF:0.04590(G)
GO-ESP:0.01459(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:80478471
GRCh38:
Chr15:80186129
FAHTyrosinemia type ILikely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr15:80478481
GRCh38:
Chr15:80186139
FAHTyrosinemia type ILikely pathogenic
(Jul 31, 2014)
criteria provided, single submitter
92.
GRCh37:
Chr15:80478496
GRCh38:
Chr15:80186154
FAHnot specifiedGMAF:0.00140(A)
GO-ESP:0.00036(A)
Likely benign
(Apr 11, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr15:80478500
GRCh38:
Chr15:80186158
FAHnot specified, HypertyrosinemiaGMAF:0.01660(T)
GO-ESP:0.00941(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr15:80478549
GRCh38:
Chr15:80186207
FAHTyrosinemia type ILikely pathogenic
(Nov 4, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr15:80478549
GRCh38:
Chr15:80186207
FAHTyrosinemia type ILikely pathogenic
(Mar 9, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr15:80478550
GRCh38:
Chr15:80186208
FAHnot specifiedGMAF:0.00060(A)
GO-ESP:0.00364(A)
Benign/Likely benign
(Nov 23, 2016)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr15:80478589
GRCh38:
Chr15:80186247
FAHnot specifiedGMAF:0.11240(C)Benigncriteria provided, single submitter
98.
GRCh37:
Chr15:80478591
GRCh38:
Chr15:80186249
FAHnot specifiedGMAF:0.11240(T)
GO-ESP:0.00001(T)
Benigncriteria provided, single submitter
99.
GRCh37:
Chr15:80478602
GRCh38:
Chr15:80186260
FAHHypertyrosinemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr15:80478639
GRCh38:
Chr15:80186297
FAHHypertyrosinemiaGMAF:0.09590(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
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