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Items: 1 to 100 of 223

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ABCA4not providedBenign
(Jan 4, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr1:94461664
GRCh38:
Chr1:93996108
ABCA4not providedPathogenic
(Aug 18, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:94461717
GRCh38:
Chr1:93996161
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Jun 15, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:94461749
GRCh38:
Chr1:93996193
ABCA4Stargardt disease 1, not specified, not provided,
Macular degeneration, Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive,
Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr1:94461754
GRCh38:
Chr1:93996198
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:94461770
GRCh38:
Chr1:93996214
ABCA4not specifiedBenign/Likely benign
(Sep 1, 2015)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:94463398-94463412
GRCh38:
Chr1:93997842-93997856
ABCA4Cone-rod dystrophy 3, Stargardt disease 1, Retinitis pigmentosa,
not provided
Pathogenic/Likely pathogenic
(May 23, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:94463488
GRCh38:
Chr1:93997932
ABCA4Stargardt disease 1, not provided, Cone/cone-rod dystrophy
Pathogenic
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:94463544-94463545
GRCh38:
Chr1:93997988-93997989
ABCA4not providedPathogenic
(Jul 10, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr1:94463617
GRCh38:
Chr1:93998061
ABCA4MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO, not specified, not provided,
Macular degeneration, Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive,
Retinitis Pigmentosa, Recessive
Benign/Likely benign, risk factor
(Aug 17, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:94463624
GRCh38:
Chr1:93998068
ABCA4not specifiedLikely benign
(Jan 7, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:94463648
GRCh38:
Chr1:93998092
ABCA4not specifiedLikely benign
(Oct 3, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:94466426
GRCh38:
Chr1:94000870
ABCA4Stargardt disease 1, Visual loss, not provided,
Blindness, Retinal dystrophy, Macular degeneration
Pathogenic/Likely pathogenic
(May 26, 2015)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:94466624
GRCh38:
Chr1:94001068
ABCA4Stargardt disease 1, not specified, not provided,
Macular degeneration, Macular dystrophy, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Oct 23, 2017)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:94466627
GRCh38:
Chr1:94001071
ABCA4not providedLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:94466628
GRCh38:
Chr1:94001072
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Apr 8, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:94466658
GRCh38:
Chr1:94001102
ABCA4not specified, not providedConflicting interpretations of pathogenicity
(Oct 24, 2017)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr1:94466659
GRCh38:
Chr1:94001103
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:94466660
GRCh38:
Chr1:94001104
ABCA4not providedLikely pathogenic
(Feb 22, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr1:94467407
GRCh38:
Chr1:94001851
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:94467447
GRCh38:
Chr1:94001891
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:94467467
GRCh38:
Chr1:94001911
ABCA4Stargardt disease 1, Retinitis pigmentosa 19, not provided,
Retinal dystrophy
Pathogenic/Likely pathogenic
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:94467478
GRCh38:
Chr1:94001922
ABCA4not specifiedUncertain significance
(May 15, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr1:94467548
GRCh38:
Chr1:94001992
ABCA4Stargardt disease 1, not specified, not provided,
Cone/cone-rod dystrophy, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Feb 17, 2017)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:94471025
GRCh38:
Chr1:94005469
ABCA4not providedConflicting interpretations of pathogenicity
(Dec 6, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:94471055
GRCh38:
Chr1:94005499
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:94471056
GRCh38:
Chr1:94005500
ABCA4Stargardt disease 1, Retinal dystrophy, early-onset severe, not provided,
Retinal dystrophy
Pathogenic
(Mar 18, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr1:94471065
GRCh38:
Chr1:94005509
ABCA4Cone-rod dystrophy 3, Stargardt disease 1, not provided
Pathogenic
(Apr 6, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:94471067
GRCh38:
Chr1:94005511
ABCA4Stargardt disease 1, not providedLikely pathogenic
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:94471075
GRCh38:
Chr1:94005519
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign
(Jul 5, 2017)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:94471113
GRCh38:
Chr1:94005557
ABCA4not specifiedUncertain significance
(Oct 5, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr1:94471154
GRCh38:
Chr1:94005598
ABCA4not specified, not providedBenign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:94473240
GRCh38:
Chr1:94007684
ABCA4not specifiedLikely benign
(May 20, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr1:94473263
GRCh38:
Chr1:94007707
ABCA4not provided, Retinal dystrophyLikely pathogenic
(Sep 26, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr1:94473266
GRCh38:
Chr1:94007710
ABCA4not providedPathogenic
(Jun 23, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:94473287
GRCh38:
Chr1:94007731
ABCA4Stargardt disease 1, Stargardt disease, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jan 31, 2017)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr1:94473771
GRCh38:
Chr1:94008215
ABCA4not specifiedLikely benign
(Mar 21, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr1:94473790
GRCh38:
Chr1:94008234
ABCA4not providedPathogenic
(Sep 28, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr1:94473807
GRCh38:
Chr1:94008251
ABCA4Cone-rod dystrophy 3, Stargardt disease 1, MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO,
not provided, Retinal dystrophy, Macular dystrophy,
Inborn genetic diseases, ABCA4-Related Disorders
Pathogenic/Likely pathogenic, risk factor
(May 5, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:94473819-94473822
GRCh38:
Chr1:94008263-94008266
ABCA4not providedPathogenic
(May 12, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:94473845
GRCh38:
Chr1:94008289
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Oct 31, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:94473846
GRCh38:
Chr1:94008290
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:94473856
GRCh38:
Chr1:94008300
ABCA4Retinitis pigmentosa, not providedPathogenic/Likely pathogenic
(May 9, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr1:94473864
GRCh38:
Chr1:94008308
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:94474328
GRCh38:
Chr1:94008772
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Oct 26, 2016)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:94476351
GRCh38:
Chr1:94010795
ABCA4not providedLikely pathogenic
(Jan 26, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:94476351
GRCh38:
Chr1:94010795
ABCA4Cone-rod dystrophy 3, Stargardt disease 1, Retinitis pigmentosa 19,
Stargardt disease, not provided
Pathogenic/Likely pathogenic
(May 9, 2017)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:94476388
GRCh38:
Chr1:94010832
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign/Likely benign
(Oct 31, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:94476411
GRCh38:
Chr1:94010855
ABCA4not specifiedUncertain significance
(Jan 25, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:94476424
GRCh38:
Chr1:94010868
ABCA4not providedLikely pathogenic
(Dec 29, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr1:94476467
GRCh38:
Chr1:94010911
ABCA4not specified, not provided, Macular degeneration,
Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Oct 31, 2017)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr1:94476830
GRCh38:
Chr1:94011274
ABCA4not providedLikely pathogenic
(May 7, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr1:94476951
GRCh38:
Chr1:94011395
ABCA4Cone-rod dystrophy 3, Stargardt disease 1, not provided,
Retinal dystrophy, Macular dystrophy, Bull's eye maculopathy
Pathogenic/Likely pathogenic
(May 24, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:94480232
GRCh38:
Chr1:94014676
ABCA4not providedLikely pathogenic
(Aug 16, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr1:94480241
GRCh38:
Chr1:94014685
ABCA4Stargardt disease 1, not providedLikely pathogenic
(Jan 5, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:94480243
GRCh38:
Chr1:94014687
ABCA4not providedPathogenic
(Feb 12, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:94481325
GRCh38:
Chr1:94015769
ABCA4not providedLikely pathogenic
(May 26, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr1:94483979
GRCh38:
Chr1:94018423
ABCA4not specifiedLikely benign
(Aug 21, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr1:94484002
GRCh38:
Chr1:94018446
ABCA4not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr1:94485137
GRCh38:
Chr1:94019581
ABCA4Stargardt disease 1, not providedPathogenic
(Aug 17, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:94485172-94485173
GRCh38:
Chr1:94019616-94019617
ABCA4Stargardt disease 1, not providedPathogenic
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:94485206
GRCh38:
Chr1:94019650
ABCA4not providedLikely pathogenic
(May 16, 2013)
criteria provided, single submitter
63.
GRCh37:
Chr1:94485257
GRCh38:
Chr1:94019701
ABCA4not providedLikely pathogenic
(Jan 5, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr1:94485278
GRCh38:
Chr1:94019722
ABCA4not specified, not providedConflicting interpretations of pathogenicity
(Apr 1, 2015)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr1:94486788
GRCh38:
Chr1:94021232
ABCA4not specifiedBenign
(May 6, 2014)
criteria provided, single submitter
66.
GRCh37:
Chr1:94486794
GRCh38:
Chr1:94021238
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Dec 31, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:94486794
GRCh38:
Chr1:94021238
ABCA4not providedPathogenic
(May 20, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr1:94486860
GRCh38:
Chr1:94021304
ABCA4not providedPathogenic
(Apr 8, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr1:94486888
GRCh38:
Chr1:94021332
ABCA4not specified, not providedLikely benign
(May 18, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr1:94486889
GRCh38:
Chr1:94021333
ABCA4not specified, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Feb 2, 2017)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr1:94486895
GRCh38:
Chr1:94021339
ABCA4Stargardt disease 1, not provided, Retinal dystrophy
Pathogenic/Likely pathogenic
(Feb 23, 2017)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:94486896
GRCh38:
Chr1:94021340
ABCA4Stargardt disease 1, Leber congenital amaurosis, not specified,
not provided, Retinal dystrophy
Conflicting interpretations of pathogenicity
(Jun 16, 2017)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:94486941
GRCh38:
Chr1:94021385
ABCA4not providedLikely pathogenic
(Jun 1, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr1:94487251
GRCh38:
Chr1:94021695
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:94487286-94487287
GRCh38:
Chr1:94021730-94021731
ABCA4not specified, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Benign
(Feb 25, 2018)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:94487399
GRCh38:
Chr1:94021843
ABCA4Stargardt disease 1, not providedPathogenic
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:94487404
GRCh38:
Chr1:94021848
ABCA4Stargardt disease 1, not specified, not provided,
Cone/cone-rod dystrophy, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Jan 5, 2017)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr1:94487422
GRCh38:
Chr1:94021866
ABCA4not specifiedUncertain significance
(Jul 21, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr1:94487490
GRCh38:
Chr1:94021934
ABCA4Stargardt disease 1, not specified, not provided,
Retinal dystrophy, ABCA4-Related Disorders, Cone-Rod Dystrophy, Recessive,
Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Nov 25, 2016)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr1:94487522
GRCh38:
Chr1:94021966
ABCA4not specified, not providedBenign
(Mar 4, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr1:94488972
GRCh38:
Chr1:94023416
ABCA4not providedPathogenic
(Sep 10, 2015)
criteria provided, single submitter
82.
GRCh37:
Chr1:94490567
GRCh38:
Chr1:94025011
ABCA4Stargardt disease 1, Retinitis pigmentosa 19, not provided,
Inborn genetic diseases
Pathogenic/Likely pathogenic
(Oct 31, 2017)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:94492640
GRCh38:
Chr1:94027084
ABCA4Stargardt disease 1, not specifiedConflicting interpretations of pathogenicity
(Aug 21, 2017)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr1:94492937
GRCh38:
Chr1:94027381
ABCA4not specifiedLikely benign
(Aug 21, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr1:94495003
GRCh38:
Chr1:94029447
ABCA4Stargardt disease 1, Retinitis pigmentosa, not provided,
Macular dystrophy
Pathogenic/Likely pathogenic
(Aug 8, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr1:94495008
GRCh38:
Chr1:94029452
ABCA4not providedLikely pathogenic
(Jun 11, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr1:94495071
GRCh38:
Chr1:94029515
ABCA4Stargardt disease 1, not provided, Retinal dystrophy
Pathogenic/Likely pathogenic
(Mar 31, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:94495078
GRCh38:
Chr1:94029522
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Oct 12, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:94495083
GRCh38:
Chr1:94029527
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:94495177
GRCh38:
Chr1:94029621
ABCA4Stargardt disease 1, not specified, not provided
Conflicting interpretations of pathogenicity
(Feb 23, 2017)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr1:94495970
GRCh38:
Chr1:94030414
ABCA4not specifiedLikely benign
(May 31, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr1:94496010
GRCh38:
Chr1:94030454
ABCA4not providedLikely pathogenic
(Feb 23, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr1:94496040
GRCh38:
Chr1:94030484
ABCA4not specifiedLikely benign
(Nov 16, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr1:94496080
GRCh38:
Chr1:94030524
ABCA4not specified, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Likely benign
(May 22, 2017)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:94496539
GRCh38:
Chr1:94030983
ABCA4not specified, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:94496547
GRCh38:
Chr1:94030991
ABCA4Stargardt disease 1, not providedPathogenic/Likely pathogenic
(Jul 17, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr1:94496548
GRCh38:
Chr1:94030992
ABCA4not provided, Inborn genetic diseasesLikely pathogenic
(Oct 31, 2017)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:94496571
GRCh38:
Chr1:94031015
ABCA4Stargardt disease 1, not providedPathogenic
(Jan 1, 2016)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:94496583
GRCh38:
Chr1:94031027
ABCA4Stargardt disease 1, not specified, not provided,
Retinal dystrophy
Conflicting interpretations of pathogenicity
(Feb 9, 2017)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr1:94496585
GRCh38:
Chr1:94031029
ABCA4not providedLikely pathogenic
(Mar 27, 2013)
criteria provided, single submitter
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