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Items: 1 to 100 of 167

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:46032635
GRCh38:
Chr19:45529377
OPA3not specifiedLikely benign
(Oct 13, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr19:46032673
GRCh38:
Chr19:45529415
OPA3not specifiedGMAF:0.00260(T)
GO-ESP:0.00065(T)
Uncertain significance
(Oct 7, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:46049526
GRCh38:
Chr19:45546268
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00120(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr19:46049591
GRCh38:
Chr19:45546333
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00340(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr19:46049672-46049676
GRCh38:
Chr19:45546414-45546418
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00080(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr19:46049687
GRCh38:
Chr19:45546429
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.01240(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:46049757
GRCh38:
Chr19:45546499
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.09430(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:46049870
GRCh38:
Chr19:45546612
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00040(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr19:46049982
GRCh38:
Chr19:45546724
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.22460(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr19:46049999
GRCh38:
Chr19:45546741
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:46050005
GRCh38:
Chr19:45546747
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00500(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr19:46050084
GRCh38:
Chr19:45546826
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00060(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:46050098
GRCh38:
Chr19:45546840
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr19:46050202
GRCh38:
Chr19:45546944
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr19:46050311
GRCh38:
Chr19:45547053
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr19:46050330
GRCh38:
Chr19:45547072
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00220(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr19:46050335-46050336
GRCh38:
Chr19:45547077-45547078
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr19:46050378
GRCh38:
Chr19:45547120
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.01320(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr19:46050478
GRCh38:
Chr19:45547220
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00960(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr19:46050483
GRCh38:
Chr19:45547225
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00080(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:46050494
GRCh38:
Chr19:45547236
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr19:46050497
GRCh38:
Chr19:45547239
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.01760(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr19:46050564
GRCh38:
Chr19:45547306
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00360(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr19:46050647
GRCh38:
Chr19:45547389
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr19:46050667-46050668
GRCh38:
Chr19:45547409-45547410
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.02340(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr19:46050700
GRCh38:
Chr19:45547442
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr19:46050760
GRCh38:
Chr19:45547502
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.36200(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr19:46050828
GRCh38:
Chr19:45547570
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00260(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr19:46050867
GRCh38:
Chr19:45547609
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00660(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr19:46050884
GRCh38:
Chr19:45547626
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr19:46050899
GRCh38:
Chr19:45547641
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr19:46050989
GRCh38:
Chr19:45547731
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00040(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr19:46050998
GRCh38:
Chr19:45547740
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr19:46050998
GRCh38:
Chr19:45547740
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr19:46051033
GRCh38:
Chr19:45547775
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr19:46051175
GRCh38:
Chr19:45547917
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr19:46051247
GRCh38:
Chr19:45547989
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.09780(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr19:46051249
GRCh38:
Chr19:45547991
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.22940(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr19:46051276
GRCh38:
Chr19:45548018
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr19:46051415
GRCh38:
Chr19:45548157
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr19:46051514
GRCh38:
Chr19:45548256
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr19:46051803
GRCh38:
Chr19:45548545
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr19:46051818
GRCh38:
Chr19:45548560
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00180(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr19:46051823
GRCh38:
Chr19:45548565
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00280(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr19:46051851-46051853
GRCh38:
Chr19:45548593-45548595
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr19:46051907-46051910
GRCh38:
Chr19:45548649-45548652
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr19:46051915
GRCh38:
Chr19:45548657
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.23900(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr19:46051919
GRCh38:
Chr19:45548661
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr19:46051920-46051922
GRCh38:
Chr19:45548662-45548664
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.23900(TTT)Benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr19:46051978
GRCh38:
Chr19:45548720
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00980(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr19:46052049-46052052
GRCh38:
Chr19:45548791-45548794
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr19:46052049-46052056
GRCh38:
Chr19:45548791-45548798
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.46990(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr19:46052049-46052052
GRCh38:
Chr19:45548791-45548794
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.46990(-)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr19:46052060
GRCh38:
Chr19:45548802
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr19:46052100
GRCh38:
Chr19:45548842
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.09430(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr19:46052186
GRCh38:
Chr19:45548928
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr19:46052187
GRCh38:
Chr19:45548929
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr19:46052251
GRCh38:
Chr19:45548993
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr19:46052308
GRCh38:
Chr19:45549050
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr19:46052333
GRCh38:
Chr19:45549075
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00080(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr19:46052353
GRCh38:
Chr19:45549095
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr19:46052454
GRCh38:
Chr19:45549196
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.24160(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr19:46052621-46052625
GRCh38:
Chr19:45549363-45549367
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.24160(CAGGG)Benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr19:46052746
GRCh38:
Chr19:45549488
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr19:46052746
GRCh38:
Chr19:45549488
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr19:46052800
GRCh38:
Chr19:45549542
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.01800(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr19:46052881
GRCh38:
Chr19:45549623
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr19:46052888
GRCh38:
Chr19:45549630
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00060(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr19:46052894
GRCh38:
Chr19:45549636
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.09270(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr19:46052898
GRCh38:
Chr19:45549640
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.15460(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr19:46052927
GRCh38:
Chr19:45549669
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr19:46053017
GRCh38:
Chr19:45549759
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00040(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr19:46053050
GRCh38:
Chr19:45549792
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.10640(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr19:46053191
GRCh38:
Chr19:45549933
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr19:46053241
GRCh38:
Chr19:45549983
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.06110(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr19:46053276
GRCh38:
Chr19:45550018
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr19:46053385
GRCh38:
Chr19:45550127
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.23980(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr19:46053412
GRCh38:
Chr19:45550154
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00200(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr19:46053415-46053419
GRCh38:
Chr19:45550157-45550161
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00080(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr19:46053494
GRCh38:
Chr19:45550236
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr19:46053550
GRCh38:
Chr19:45550292
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00840(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr19:46053560
GRCh38:
Chr19:45550302
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.09450(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr19:46053655
GRCh38:
Chr19:45550397
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.01320(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr19:46053656-46053658
GRCh38:
Chr19:45550398-45550400
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.24020(-)Benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr19:46053734
GRCh38:
Chr19:45550476
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.05850(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr19:46053876
GRCh38:
Chr19:45550618
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr19:46054058
GRCh38:
Chr19:45550800
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr19:46054070
GRCh38:
Chr19:45550812
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr19:46054076
GRCh38:
Chr19:45550818
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00320(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr19:46054182
GRCh38:
Chr19:45550924
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr19:46054227
GRCh38:
Chr19:45550969
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr19:46054254
GRCh38:
Chr19:45550996
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00040(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr19:46054282
GRCh38:
Chr19:45551024
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr19:46054287
GRCh38:
Chr19:45551029
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.10640(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr19:46054303
GRCh38:
Chr19:45551045
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00960(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr19:46054628-46054629
GRCh38:
Chr19:45551370-45551371
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00220(-)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr19:46054671
GRCh38:
Chr19:45551413
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00260(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr19:46054683
GRCh38:
Chr19:45551425
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr19:46054764
GRCh38:
Chr19:45551506
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.00160(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr19:46054822
GRCh38:
Chr19:45551564
OPA33-Methylglutaconic aciduria type 3, Optic Atrophy, DominantGMAF:0.24320(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
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