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Items: 1 to 100 of 156

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:61725714
GRCh38:
Chr11:61958242
BEST1L165I, L211I, L271Inot specified, Vitelliform macular dystrophy 2Uncertain significance
(Apr 27, 2023)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr11:61727034
GRCh38:
Chr11:61959562
FTH1, BEST1S379A, V205G, V251G, V311GVitelliform macular dystrophy 2Pathogenic
(Dec 20, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr11:61719295
GRCh38:
Chr11:61951823
BEST1T6KVitelliform macular dystrophy 2Likely pathogenic
(Mar 29, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr11:61727003
GRCh38:
Chr11:61959531
BEST1D195H, D241H, D301H, R368SVitelliform macular dystrophy 2Likely pathogenic
(Jul 29, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr11:61723306
GRCh38:
Chr11:61955834
BEST1R122W, R16W, R62WVitelliform macular dystrophy 2Likely pathogenic
(Jul 15, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr11:61725640
GRCh38:
Chr11:61958168
BEST1S140N, S186N, S246NVitelliform macular dystrophy 2Pathogenic
(May 4, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr11:61723225
GRCh38:
Chr11:61955753
BEST1N35Y, N95YVitelliform macular dystrophy 2Likely pathogenic
(May 31, 2021)		criteria provided, single submitter
8.
GRCh37:
Chr11:61724514
GRCh38:
Chr11:61957042
BEST1not provided, Autosomal dominant vitreoretinochoroidopathy, Retinitis pigmentosa 50,
Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:61726871
GRCh38:
Chr11:61959399
BEST1Vitelliform macular dystrophy 2, not provided, Retinitis pigmentosa 50,
Autosomal recessive bestrophinopathy, Autosomal dominant vitreoretinochoroidopathy		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:61726097
GRCh38:
Chr11:61958625
BEST1not provided, Autosomal dominant vitreoretinochoroidopathy, Retinitis pigmentosa 50,
Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:61727481
GRCh38:
Chr11:61960009
BEST1R250*, R269*, R296*, R32*, R356*not providedPathogenic
(Jul 14, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr11:61730178
GRCh38:
Chr11:61962706
BEST1E194*, E412*, E431*, E458*, E518*not provided, Vitelliform macular dystrophy 2Pathogenic/Likely pathogenic
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:61727389
GRCh38:
Chr11:61959917
BEST1C393R, M1T, M219T, M238T, M265T, M325TVitelliform macular dystrophy 2, not providedConflicting interpretations of pathogenicity
(Jul 14, 2022)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr11:61727383
GRCh38:
Chr11:61959911
BEST1D217V, D236V, D263V, D323V, M391LVitelliform macular dystrophy 2Uncertain significance
(Apr 8, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr11:61727009
GRCh38:
Chr11:61959537
BEST1D197Y, D243Y, D303Y, M370IVitelliform macular dystrophy 2Likely pathogenic
(Jan 30, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr11:61730158
GRCh38:
Chr11:61962686
BEST1K187R, K405R, K424R, K451R, K511RAutosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Retinitis pigmentosa 50,
Autosomal recessive bestrophinopathy, not provided		Uncertain significance
(Jul 13, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:61724860
GRCh38:
Chr11:61957388
BEST1E107G, E153G, E213GAutosomal recessive bestrophinopathy, Vitelliform macular dystrophy 2, not provided
Conflicting interpretations of pathogenicity
(Jul 14, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:61723369
GRCh38:
Chr11:61955897
BEST1V143L, V37L, V83Lnot provided, Vitelliform macular dystrophy 2Conflicting interpretations of pathogenicity
(Jun 17, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr6:42666097-42666100
GRCh38:
Chr6:42698359-42698362
PRPH2K325fsVitelliform macular dystrophy 2Uncertain significance
(Jan 7, 2020)		criteria provided, single submitter
20.
GRCh37:
Chr6:42672319
GRCh38:
Chr6:42704581
PRPH2Y204*Patterned dystrophy of the retinal pigment epithelium, Vitelliform macular dystrophy 2, PRPH2-Related Disorders,
Stargardt disease		Pathogenic
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:100961682
GRCh38:
Chr3:101242838
IMPG2S958Gnot provided, Vitelliform macular dystrophy 2Conflicting interpretations of pathogenicity
(Sep 1, 2021)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr11:61723255
GRCh38:
Chr11:61955783
BEST1R45G, R105GVitelliform macular dystrophy 2Uncertain significance
(Jun 3, 2019)		criteria provided, single submitter
23.
GRCh37:
Chr11:61730070
GRCh38:
Chr11:61962598
BEST1E376fs, E422fs, E158fs, E395fs, E482fsnot provided, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Pathogenic/Likely pathogenic
(Aug 2, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:61724367-61724369
GRCh38:
Chr11:61956895-61956897
BEST1N119del, N179del, N73delnot provided, Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy
Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:61727384
GRCh38:
Chr11:61959912
BEST1D236E, M391K, D217E, D263E, D323EVitelliform macular dystrophy 2Uncertain significance
(Dec 5, 2019)		criteria provided, single submitter
26.
GRCh37:
Chr11:61731863
GRCh38:
Chr11:61964391
BEST1, FTH1Hemochromatosis type 5, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2,
Retinitis pigmentosa		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr11:61727482
GRCh38:
Chr11:61960010
BEST1E424*, R32L, R250L, R269L, R356L, R296LRetinitis pigmentosa, not provided, Autosomal dominant vitreoretinochoroidopathy,
Vitelliform macular dystrophy 2		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:61731639
GRCh38:
Chr11:61964167
BEST1Retinitis pigmentosa, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr11:61727406
GRCh38:
Chr11:61959934
BEST1R225W, R271W, R7W, R244W, R331Wnot provided, Retinitis pigmentosa, Vitelliform macular dystrophy 2,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Aug 22, 2022)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr11:61724301
GRCh38:
Chr11:61956829
BEST1not provided, Vitelliform macular dystrophy 2, Retinitis pigmentosa,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr11:61729893
GRCh38:
Chr11:61962421
BEST1E363K, E99K, E423K, E317K, E336KRetinitis pigmentosa, Vitelliform macular dystrophy 2, not provided,
Autosomal dominant vitreoretinochoroidopathy		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:61725725
GRCh38:
Chr11:61958253
BEST1Retinitis pigmentosa, Vitelliform macular dystrophy 2, not provided,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Feb 10, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr11:61723244
GRCh38:
Chr11:61955772
BEST1P101L, P41LRetinitis pigmentosa, Vitelliform macular dystrophy 2, not provided,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Jun 17, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr11:61722655
GRCh38:
Chr11:61955183
BEST1P17T, P77TRetinitis pigmentosa, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Feb 2, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr6:42672311
GRCh38:
Chr6:42704573
PRPH2D207GRetinal dystrophy, PRPH2-Related Disorders, Vitelliform macular dystrophy 2
Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr6:42666168-42666171
GRCh38:
Chr6:42698430-42698433
PRPH2S301fsPRPH2-Related Disorders, Patterned dystrophy of the retinal pigment epithelium, Retinal dystrophy,
Vitelliform macular dystrophy 2		Pathogenic/Likely pathogenic
(Mar 25, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr11:61719313
GRCh38:
Chr11:61951841
BEST1A12GVitelliform macular dystrophy 2, Retinal dystrophyUncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr3:101023036
GRCh38:
Chr3:101304192
IMPG2G152DVitelliform macular dystrophy 2Pathogenic
(Jan 9, 2020)		criteria provided, single submitter
39.
GRCh37:
Chr6:42672350
GRCh38:
Chr6:42704612
PRPH2not provided, Vitelliform macular dystrophy 2Pathogenic
(Jan 9, 2020)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr6:76728434
GRCh38:
Chr6:76018717
IMPG1Vitelliform macular dystrophy 2Pathogenic
(Jan 9, 2020)		criteria provided, single submitter
41.
GRCh37:
Chr11:61729941
GRCh38:
Chr11:61962469
BEST1Q115*, Q333*, Q379*, Q352*, Q439*not provided, Vitelliform macular dystrophy 2Pathogenic
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr11:61725754
GRCh38:
Chr11:61958282
BEST1Y224F, Y284F, Y178FVitelliform macular dystrophy 2Pathogenic
(Jan 9, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr6:42672118-42672120
GRCh38:
Chr6:42704380-42704382
PRPH2L271delPRPH2-Related Disorders, Vitelliform macular dystrophy 2, Retinal dystrophy
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr11:61727010
GRCh38:
Chr11:61959538
BEST1D243V, D197V, D303V, M371LVitelliform macular dystrophy 2Pathogenic
(Jun 23, 2019)		no assertion criteria provided
45.
GRCh37:
Chr11:61723346
GRCh38:
Chr11:61955874
BEST1G135D, G29D, G75Dnot providedUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr11:61723236
GRCh38:
Chr11:61955764
BEST1E38D, E98Dnot providedPathogenic
(Oct 13, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr11:61722644
GRCh38:
Chr11:61955172
BEST1I13N, I73Nnot providedPathogenic
(Oct 13, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr11:61722598
GRCh38:
Chr11:61955126
BEST1Q58EVitelliform macular dystrophy 2Likely pathogenic
(May 28, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr11:61727038
GRCh38:
Chr11:61959566
BEST1D312E, D206E, D252E, T380Knot providedPathogenic
(May 28, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr11:61727007
GRCh38:
Chr11:61959535
BEST1D302A, D196A, D242A, M370LVitelliform macular dystrophy 2Pathogenic
(Apr 1, 2018)		no assertion criteria provided
51.
GRCh37:
Chr11:61727006
GRCh38:
Chr11:61959534
BEST1D302N, D196N, M369I, D242NVitelliform macular dystrophy 2Pathogenic
(Apr 1, 2018)		no assertion criteria provided
52.
GRCh37:
Chr11:61719336
GRCh38:
Chr11:61951864
BEST1L20VVitelliform macular dystrophy 2Pathogenic
(Apr 1, 2018)		no assertion criteria provided
53.
GRCh37:
Chr11:61723237
GRCh38:
Chr11:61955765
BEST1N99H, N39HVitelliform macular dystrophy 2Likely pathogenic
(Apr 1, 2018)		no assertion criteria provided
54.
GRCh37:
Chr11:61723229
GRCh38:
Chr11:61955757
BEST1Q96R, Q36RMacular dystrophy, Vitelliform macular dystrophy 2Likely pathogenic
(Apr 1, 2018)		no assertion criteria provided
55.
GRCh37:
Chr11:61730041
GRCh38:
Chr11:61962569
BEST1L366fs, L148fs, L385fs, L412fs, L472fsnot provided, Vitelliform macular dystrophy 2Pathogenic/Likely pathogenic
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:61719364
GRCh38:
Chr11:61951892
BEST1Y29CVitelliform macular dystrophy 2, not providedLikely pathogenic
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:61727017
GRCh38:
Chr11:61959545
BEST1F305L, L373W, F199L, F245LVitelliform macular dystrophy 2Likely pathogenic
(Apr 20, 2017)		criteria provided, single submitter
58.
GRCh37:
Chr11:61726990
GRCh38:
Chr11:61959518
BEST1N296K, N190K, N236K, T364SVitelliform macular dystrophy 2Pathogenic
(Aug 3, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr11:61722667
GRCh38:
Chr11:61955195
BEST1V81M, V21MRetinal dystrophy, not providedPathogenic/Likely pathogenic
(Oct 7, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:61723266
GRCh38:
Chr11:61955794
BEST1S108R, S2R, S48RVitelliform macular dystrophy 2Uncertain significance
(May 7, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr11:61724378
GRCh38:
Chr11:61956906
BEST1W182R, W76R, W122RVitelliform macular dystrophy 2Uncertain significance
(May 8, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr11:61726976
GRCh38:
Chr11:61959504
BEST1E292Q, E232Q, E186Q, Q359HVitelliform macular dystrophy 2Likely pathogenic
(May 8, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr11:61727012
GRCh38:
Chr11:61959540
BEST1D304N, D244N, M371I, D198NVitelliform macular dystrophy 2Pathogenic
(Jan 21, 2015)		no assertion criteria provided
64.
GRCh37:
Chr11:61724934
GRCh38:
Chr11:61957462
BEST1Q132fs, Q238fs, Q178fsVitelliform macular dystrophy 2, not providedPathogenic/Likely pathogenic
(Jan 9, 2020)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:61719304
GRCh38:
Chr11:61951832
BEST1V9GVitelliform macular dystrophy 2Likely pathogenic
(Sep 11, 2017)		criteria provided, single submitter
66.
GRCh37:
Chr11:61724369
GRCh38:
Chr11:61956897
BEST1N179D, N73D, N119DVitelliform macular dystrophy 2Likely pathogenic
(Sep 11, 2017)		criteria provided, single submitter
67.
GRCh37:
Chr11:61727469
GRCh38:
Chr11:61959997
BEST1A352T, A246T, A28T, A292T, A265TVitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy, Autosomal dominant vitreoretinochoroidopathy,
Retinitis pigmentosa, not provided		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr3:100951716
GRCh38:
Chr3:101232872
IMPG2R1048Wnot provided, Retinitis pigmentosa, Vitelliform macular dystrophy 2
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr11:61732941
GRCh38:
Chr11:61965469
FTH1, BEST1K54RIron Overload, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy,
not provided, Vitelliform macular dystrophy 2, Hemochromatosis type 5
Benign/Likely benign
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:61732447
GRCh38:
Chr11:61964975
BEST1, FTH1Iron Overload, not provided, Retinitis Pigmentosa, Recessive,
Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Hemochromatosis type 5
Benign/Likely benign
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:61731977
GRCh38:
Chr11:61964505
BEST1, FTH1Iron Overload, Retinitis Pigmentosa, Recessive, not provided,
Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Hemochromatosis type 5
Benign
(May 10, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:61731887
GRCh38:
Chr11:61964415
FTH1, BEST1Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2,
Hemochromatosis type 5		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr11:61731880
GRCh38:
Chr11:61964408
BEST1, FTH1Retinitis Pigmentosa, Recessive, not provided, Retinitis pigmentosa,
Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Hemochromatosis type 5
Benign/Likely benign
(Aug 17, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:61731810
GRCh38:
Chr11:61964338
FTH1, BEST1Retinitis Pigmentosa, Recessive, not provided, Retinitis pigmentosa,
Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Hemochromatosis type 5
Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr11:61731803
GRCh38:
Chr11:61964331
BEST1, FTH1Retinitis Pigmentosa, Recessive, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy,
Vitelliform macular dystrophy 2, Hemochromatosis type 5		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr11:61731727
GRCh38:
Chr11:61964255
BEST1, FTH1Iron Overload, Retinitis pigmentosa, not provided,
Retinitis Pigmentosa, Recessive, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Benign/Likely benign
(Jul 10, 2018)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:61731618
GRCh38:
Chr11:61964146
BEST1, FTH1Iron Overload, Vitelliform macular dystrophy 2, Retinitis pigmentosa,
not provided, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy
Conflicting interpretations of pathogenicity
(Sep 3, 2020)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr11:61730209
GRCh38:
Chr11:61962737
BEST1E528G, E204G, E441G, E468G, E422GRetinitis pigmentosa, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr11:61730145
GRCh38:
Chr11:61962673
BEST1, FTH1S507P, S401P, S420P, S183P, S447Pnot provided, Iron Overload, Retinitis Pigmentosa, Recessive,
Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2
Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr11:61730083
GRCh38:
Chr11:61962611
BEST1P486L, P399L, P426L, P162L, P380LVitelliform macular dystrophy 2, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr11:61729956
GRCh38:
Chr11:61962484
BEST1A444T, A384T, A120T, A338T, A357TVitelliform macular dystrophy 2, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr11:61729783
GRCh38:
Chr11:61962311
BEST1H386P, H62P, H326P, H280P, H299PVitelliform macular dystrophy 2, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr11:61729769
GRCh38:
Chr11:61962297
BEST1, FTH1Iron Overload, Vitelliform macular dystrophy 2, Retinitis pigmentosa,
not provided, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr11:61727485
GRCh38:
Chr11:61960013
BEST1, FTH1A357V, A251V, P425S, A270V, A297V, A33VIron Overload, Vitelliform macular dystrophy 2, Retinitis pigmentosa,
not provided, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr11:61727479
GRCh38:
Chr11:61960007
BEST1, FTH1R355H, V423I, R31H, R249H, R268H, R295HIron Overload, Vitelliform macular dystrophy 2, Retinitis pigmentosa,
not provided, Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy
Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr11:61727369
GRCh38:
Chr11:61959897
BEST1P386RVitelliform macular dystrophy 2, Retinitis pigmentosa, not provided,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Feb 2, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr11:61725716
GRCh38:
Chr11:61958244
BEST1Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2, Retinitis pigmentosa,
not provided		Conflicting interpretations of pathogenicity
(Feb 18, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr11:61724921
GRCh38:
Chr11:61957449
BEST1Vitelliform macular dystrophy 2, Retinitis pigmentosa, not provided,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Aug 5, 2021)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr11:61723293
GRCh38:
Chr11:61955821
BEST1Retinitis pigmentosa, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr11:61722639
GRCh38:
Chr11:61955167
BEST1Retinitis pigmentosa, not provided, Vitelliform macular dystrophy 2,
Autosomal dominant vitreoretinochoroidopathy		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:61719436
GRCh38:
Chr11:61951964
BEST1Retinitis pigmentosa, Vitelliform macular dystrophy 2, not provided,
Autosomal dominant vitreoretinochoroidopathy		Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr11:61719417
GRCh38:
Chr11:61951945
BEST1R47CRetinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy, not provided,
Vitelliform macular dystrophy 2		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr11:61717870
GRCh38:
Chr11:61950398
BEST1Retinitis pigmentosa, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr11:61717815
GRCh38:
Chr11:61950343
BEST1Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
95.
GRCh37:
Chr11:61717811
GRCh38:
Chr11:61950339
BEST1Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
96.
GRCh37:
Chr11:61717715
GRCh38:
Chr11:61950243
BEST1Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2,
not provided		Benign
(Jun 26, 2018)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr11:61717607
GRCh38:
Chr11:61950135
BEST1Retinitis Pigmentosa, Recessive, not provided, Vitelliform macular dystrophy 2,
Autosomal dominant vitreoretinochoroidopathy		Benign
(Jul 7, 2018)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr11:61717563
GRCh38:
Chr11:61950091
BEST1Retinitis Pigmentosa, Recessive, Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
99.
GRCh37:
Chr11:61717508
GRCh38:
Chr11:61950036
BEST1Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
100.
GRCh37:
Chr11:61717400
GRCh38:
Chr11:61949928
BEST1Retinitis Pigmentosa, Recessive, Autosomal dominant vitreoretinochoroidopathy, Vitelliform macular dystrophy 2
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
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