S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 310

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:187112676
GRCh38:
Chr4:186191522
CYP4V2Corneal Dystrophy, Recessive, Bietti crystalline corneoretinal dystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348287
2.
GRCh37:
Chr4:187112682
GRCh38:
Chr4:186191528
CYP4V2Corneal Dystrophy, Recessive, not provided, Bietti crystalline corneoretinal dystrophy
Benign
(May 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000348288
3.
GRCh37:
Chr4:187112779
GRCh38:
Chr4:186191625
CYP4V2Corneal dystrophy, Bietti crystalline corneoretinal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000348289
4.
GRCh37:
Chr4:187112800
GRCh38:
Chr4:186191646
CYP4V2Bietti crystalline corneoretinal dystrophy, Corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000348290
5.
GRCh37:
Chr4:187112826
GRCh38:
Chr4:186191672
CYP4V2not provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Benign
(May 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000348291
6.
GRCh37:
Chr4:187112832
GRCh38:
Chr4:186191678
CYP4V2not provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Benign
(May 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000348292
7.
GRCh37:
Chr4:187112845
GRCh38:
Chr4:186191691
CYP4V2Corneal dystrophy, Bietti crystalline corneoretinal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900541
8.
GRCh37:
Chr4:187112848
GRCh38:
Chr4:186191694
CYP4V2Corneal Dystrophy, Recessive, Bietti crystalline corneoretinal dystrophyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000348293
9.
GRCh37:
Chr4:187112850
GRCh38:
Chr4:186191696
CYP4V2Bietti crystalline corneoretinal dystrophy, Corneal dystrophyBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000348294
10.
GRCh37:
Chr4:187112922
GRCh38:
Chr4:186191768
CYP4V2Bietti crystalline corneoretinal dystrophy, Corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000348295
11.
GRCh37:
Chr4:187112956
GRCh38:
Chr4:186191802
CYP4V2Corneal dystrophy, Bietti crystalline corneoretinal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902209
12.
GRCh37:
Chr4:187112991
GRCh38:
Chr4:186191837
CYP4V2W5Snot providedUncertain significance
(Mar 5, 2020)
criteria provided, single submitterVCV001005466
13.
GRCh37:
Chr4:187113001
GRCh38:
Chr4:186191847
CYP4V2not provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Conflicting interpretations of pathogenicity
(Oct 9, 2020)
criteria provided, conflicting interpretationsVCV000348296
14.
GRCh37:
Chr4:187113014
GRCh38:
Chr4:186191860
CYP4V2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794058
15.
GRCh37:
Chr4:187113017
GRCh38:
Chr4:186191863
CYP4V2L14Vnot providedUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV001026579
16.
GRCh37:
Chr4:187113021
GRCh38:
Chr4:186191867
CYP4V2L15Pnot providedUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV000840464
17.
GRCh37:
Chr4:187113041
GRCh38:
Chr4:186191887
CYP4V2L22VBietti crystalline corneoretinal dystrophy, not provided, Corneal dystrophy,
not specified
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000039267
18.
GRCh37:
Chr4:187113045
GRCh38:
Chr4:186191891
CYP4V2S23Ynot providedUncertain significance
(Oct 9, 2019)
criteria provided, single submitterVCV000953153
19.
GRCh37:
Chr4:187113076
GRCh38:
Chr4:186191922
CYP4V2Corneal dystrophy, Bietti crystalline corneoretinal dystrophy, not provided
Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000782095
20.
GRCh37:
Chr4:187113078
GRCh38:
Chr4:186191924
CYP4V2L34Pnot providedUncertain significance
(Sep 18, 2020)
criteria provided, single submitterVCV001039696
21.
GRCh37:
Chr4:187113097
GRCh38:
Chr4:186191943
CYP4V2Y40*Bietti crystalline corneoretinal dystrophyPathogenic
(Jun 23, 2019)
no assertion criteria providedVCV000812304
22.
GRCh37:
Chr4:187113107
GRCh38:
Chr4:186191953
CYP4V2W44Rnot provided, Bietti crystalline corneoretinal dystrophyUncertain significance
(Oct 22, 2019)
criteria provided, single submitterVCV000002187
23.
GRCh37:
Chr4:187113120
GRCh38:
Chr4:186191966
CYP4V2R48Pnot providedUncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV001039750
24.
GRCh37:
Chr4:187113124
GRCh38:
Chr4:186191970
CYP4V2not providedLikely benign
(Feb 22, 2020)
criteria provided, single submitterVCV001093082
25.
GRCh37:
Chr4:187113140
GRCh38:
Chr4:186191986
CYP4V2R55SBietti crystalline corneoretinal dystrophy, Corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000348297
26.
GRCh37:
Chr4:187113145
GRCh38:
Chr4:186191991
CYP4V2not providedLikely benign
(Sep 17, 2020)
criteria provided, single submitterVCV001149578
27.
GRCh37:
Chr4:187113146
GRCh38:
Chr4:186191992
CYP4V2Y57Hnot providedUncertain significance
(Sep 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000096675
28.
GRCh37:
Chr4:187113151
GRCh38:
Chr4:186191997
CYP4V2not providedLikely benign
(Jul 2, 2020)
criteria provided, single submitterVCV001146324
29.
GRCh37:
Chr4:187113153
GRCh38:
Chr4:186191999
CYP4V2L59fsnot providedPathogenic
(Dec 30, 2019)
criteria provided, single submitterVCV000845917
30.
GRCh37:
Chr4:187113158
GRCh38:
Chr4:186192004
CYP4V2G61SBietti crystalline corneoretinal dystrophyPathogenic
(Apr 12, 2012)
no assertion criteria providedVCV000002190
31.
GRCh37:
Chr4:187113171
GRCh38:
Chr4:186192017
CYP4V2L65PRetinal dystrophyUncertain significance
(Jul 16, 2018)
criteria provided, single submitterVCV000866106
32.
GRCh37:
Chr4:187113174
GRCh38:
Chr4:186192020
CYP4V2M66RRetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria providedVCV000438149
33.
GRCh37:
Chr4:187113191
GRCh38:
Chr4:186192037
CYP4V2E72Knot providedUncertain significance
(Sep 19, 2019)
criteria provided, single submitterVCV000935191
34.
GRCh37:
Chr4:187113200
GRCh38:
Chr4:186192046
CYP4V2not providedLikely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001100448
35.
GRCh37:
Chr4:187113201
GRCh38:
Chr4:186192047
CYP4V2not providedLikely benign
(Jan 24, 2020)
criteria provided, single submitterVCV001116316
36.
GRCh37:
Chr4:187113308
GRCh38:
Chr4:186192154
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001220897
37.
GRCh37:
Chr4:187115411
GRCh38:
Chr4:186194257
CYP4V2not providedBenign
(May 20, 2021)
criteria provided, single submitterVCV001221161
38.
GRCh37:
Chr4:187115416
GRCh38:
Chr4:186194262
CYP4V2not providedBenign
(May 18, 2021)
criteria provided, single submitterVCV001224874
39.
GRCh37:
Chr4:187115421
GRCh38:
Chr4:186194267
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001283825
40.
GRCh37:
Chr4:187115632
GRCh38:
Chr4:186194478
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001251014
41.
GRCh37:
Chr4:187115656-187115657
GRCh38:
Chr4:186194502-186194503
CYP4V2F74fsnot providedPathogenic
(Mar 8, 2018)
criteria provided, single submitterVCV000596524
42.
GRCh37:
Chr4:187115668
GRCh38:
Chr4:186194514
CYP4V2I77Fnot providedUncertain significance
(Jul 30, 2020)
criteria provided, single submitterVCV001044899
43.
GRCh37:
Chr4:187115676
GRCh38:
Chr4:186194522
CYP4V2E79DBietti crystalline corneoretinal dystrophy, Corneal dystrophy, Retinal dystrophy,
not provided
Conflicting interpretations of pathogenicity
(Jul 22, 2020)
criteria provided, conflicting interpretationsVCV000039259
44.
GRCh37:
Chr4:187115679
GRCh38:
Chr4:186194525
CYP4V2not providedLikely benign
(Sep 18, 2020)
criteria provided, single submitterVCV001126823
45.
GRCh37:
Chr4:187115692
GRCh38:
Chr4:186194538
CYP4V2R85CBietti crystalline corneoretinal dystrophy, not providedLikely pathogenic
(Feb 8, 2020)
criteria provided, single submitterVCV000039260
46.
GRCh37:
Chr4:187115700-187115702
GRCh38:
Chr4:186194546-186194548
CYP4V2P88delnot providedUncertain significance
(Jul 27, 2019)
criteria provided, single submitterVCV000944019
47.
GRCh37:
Chr4:187115702
GRCh38:
Chr4:186194548
CYP4V2P88Lnot providedUncertain significance
(Sep 4, 2020)
criteria provided, single submitterVCV001061065
48.
GRCh37:
Chr4:187115703
GRCh38:
Chr4:186194549
CYP4V2not providedLikely benign
(Feb 26, 2020)
criteria provided, single submitterVCV001101382
49.
GRCh37:
Chr4:187115703
GRCh38:
Chr4:186194549
CYP4V2not providedLikely benign
(Jun 13, 2018)
criteria provided, single submitterVCV000750554
50.
GRCh37:
Chr4:187115709
GRCh38:
Chr4:186194555
CYP4V2not providedLikely benign
(Nov 2, 2020)
criteria provided, single submitterVCV000722704
51.
GRCh37:
Chr4:187115721
GRCh38:
Chr4:186194567
CYP4V2not provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Conflicting interpretations of pathogenicity
(Nov 12, 2020)
criteria provided, conflicting interpretationsVCV000348298
52.
GRCh37:
Chr4:187115722
GRCh38:
Chr4:186194568
CYP4V2G95Rnot provided, Bietti crystalline corneoretinal dystrophyPathogenic/Likely pathogenic
(Feb 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000039261
53.
GRCh37:
Chr4:187115735
GRCh38:
Chr4:186194581
CYP4V2M99Tnot providedUncertain significance
(Jun 22, 2020)
criteria provided, single submitterVCV000850690
54.
GRCh37:
Chr4:187115741
GRCh38:
Chr4:186194587
CYP4V2A101Vnot provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Uncertain significance
(Feb 29, 2020)
criteria provided, multiple submitters, no conflictsVCV000348299
55.
GRCh37:
Chr4:187115750
GRCh38:
Chr4:186194596
CYP4V2N104SCorneal Dystrophy, Recessive, Bietti crystalline corneoretinal dystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000348300
56.
GRCh37:
Chr4:187115767
GRCh38:
Chr4:186194613
CYP4V2Bietti crystalline corneoretinal dystrophyPathogenic
(Apr 12, 2012)
no assertion criteria providedVCV000039262
57.
GRCh37:
Chr4:187115773
GRCh38:
Chr4:186194619
CYP4V2not providedLikely benign
(Jan 10, 2020)
criteria provided, single submitterVCV001137157
58.
GRCh37:
Chr4:187115777
GRCh38:
Chr4:186194623
CYP4V2not provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy,
not specified
Benign/Likely benign
(May 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000348301
59.
GRCh37:
Chr4:187115841
GRCh38:
Chr4:186194687
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001276058
60.
GRCh37:
Chr4:187115945
GRCh38:
Chr4:186194791
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001224962
61.
GRCh37:
Chr4:187115996
GRCh38:
Chr4:186194842
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001226654
62.
GRCh37:
Chr4:187117070
GRCh38:
Chr4:186195916
CYP4V2not providedBenign
(May 18, 2021)
criteria provided, single submitterVCV001227591
63.
GRCh37:
Chr4:187117154
GRCh38:
Chr4:186196000
CYP4V2not providedUncertain significance
(Sep 11, 2020)
criteria provided, single submitterVCV001005212
64.
GRCh37:
Chr4:187117161
GRCh38:
Chr4:186196007
CYP4V2I111Tnot provided, Bietti crystalline corneoretinal dystrophyPathogenic
(Aug 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000002188
65.
GRCh37:
Chr4:187117164
GRCh38:
Chr4:186196010
CYP4V2L112*Bietti crystalline corneoretinal dystrophyPathogenic
(Apr 12, 2012)
no assertion criteria providedVCV000039263
66.
GRCh37:
Chr4:187117167
GRCh38:
Chr4:186196013
CYP4V2T113Snot providedUncertain significance
(Sep 2, 2020)
criteria provided, single submitterVCV001036016
67.
GRCh37:
Chr4:187117179
GRCh38:
Chr4:186196025
CYP4V2Q117Pnot providedUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001021205
68.
GRCh37:
Chr4:187117196
GRCh38:
Chr4:186196042
CYP4V2M123Vnot provided, Corneal dystrophy, Retinal dystrophy,
Bietti crystalline corneoretinal dystrophy
Conflicting interpretations of pathogenicity
(Nov 23, 2020)
criteria provided, conflicting interpretationsVCV000039264
69.
GRCh37:
Chr4:187117205
GRCh38:
Chr4:186196051
CYP4V2F126Inot providedUncertain significance
(Dec 20, 2019)
criteria provided, single submitterVCV000844296
70.
GRCh37:
Chr4:187117209
GRCh38:
Chr4:186196055
CYP4V2L127*CYP4V2-Related Disorders, not providedConflicting interpretations of pathogenicity
(Jul 2, 2020)
criteria provided, conflicting interpretationsVCV000631943
71.
GRCh37:
Chr4:187117229
GRCh38:
Chr4:186196075
CYP4V2G134*not provided, Bietti crystalline corneoretinal dystrophyPathogenic
(May 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000039265
72.
GRCh37:
Chr4:187118077
GRCh38:
Chr4:186196923
CYP4V2not providedLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV001108146
73.
GRCh37:
Chr4:187118087
GRCh38:
Chr4:186196933
CYP4V2not providedLikely benign
(Jan 23, 2020)
criteria provided, single submitterVCV001143269
74.
GRCh37:
Chr4:187118102
GRCh38:
Chr4:186196948
CYP4V2N141Snot providedUncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV001044395
75.
GRCh37:
Chr4:187118103
GRCh38:
Chr4:186196949
CYP4V2not providedLikely benign
(Oct 4, 2019)
criteria provided, single submitterVCV001080689
76.
GRCh37:
Chr4:187118110
GRCh38:
Chr4:186196956
CYP4V2R144Cnot providedUncertain significance
(Oct 21, 2019)
criteria provided, single submitterVCV000967143
77.
GRCh37:
Chr4:187118111
GRCh38:
Chr4:186196957
CYP4V2R144Hnot providedUncertain significance
(Jan 15, 2020)
criteria provided, single submitterVCV001061602
78.
GRCh37:
Chr4:187118112
GRCh38:
Chr4:186196958
CYP4V2not providedLikely benign
(Jan 3, 2020)
criteria provided, single submitterVCV001157339
79.
GRCh37:
Chr4:187118176-187118179
GRCh38:
Chr4:186197022-186197025
CYP4V2E168fsBietti crystalline corneoretinal dystrophyLikely pathogenic
(Mar 3, 2020)
criteria provided, single submitterVCV000930032
80.
GRCh37:
Chr4:187118198
GRCh38:
Chr4:186197044
CYP4V2L173WBietti crystalline corneoretinal dystrophyPathogenic
(Apr 12, 2012)
no assertion criteria providedVCV000039266
81.
GRCh37:
Chr4:187118218
GRCh38:
Chr4:186197064
CYP4V2H180Ynot providedUncertain significance
(Oct 14, 2020)
criteria provided, single submitterVCV001041927
82.
GRCh37:
Chr4:187118221
GRCh38:
Chr4:186197067
CYP4V2I181Vnot providedUncertain significance
(Jan 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000284229
83.
GRCh37:
Chr4:187118224
GRCh38:
Chr4:186197070
CYP4V2N182fsnot providedPathogenic
(Oct 31, 2017)
criteria provided, single submitterVCV001070288
84.
GRCh37:
Chr4:187118235
GRCh38:
Chr4:186197081
CYP4V2not provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Benign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000348302
85.
GRCh37:
Chr4:187118251
GRCh38:
Chr4:186197097
CYP4V2Y191Nnot providedUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV000998706
86.
GRCh37:
Chr4:187118358
GRCh38:
Chr4:186197204
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001279545
87.
GRCh37:
Chr4:187118359
GRCh38:
Chr4:186197205
CYP4V2not providedBenign
(May 18, 2021)
criteria provided, single submitterVCV001234479
88.
GRCh37:
Chr4:187118662
GRCh38:
Chr4:186197508
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001235034
89.
GRCh37:
Chr4:187118692
GRCh38:
Chr4:186197538
CYP4V2A204TCorneal dystrophy, not provided, Bietti crystalline corneoretinal dystrophy
Conflicting interpretations of pathogenicity
(Nov 24, 2020)
criteria provided, conflicting interpretationsVCV000493404
90.
GRCh37:
Chr4:187118708
GRCh38:
Chr4:186197554
CYP4V2I209Tnot provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Uncertain significance
(Oct 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000348303
91.
GRCh37:
Chr4:187118720
GRCh38:
Chr4:186197566
CYP4V2S213Nnot provided, Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
Benign/Likely benign
(May 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000348304
92.
GRCh37:
Chr4:187118737
GRCh38:
Chr4:186197583
CYP4V2Y219HBietti crystalline corneoretinal dystrophyPathogenic
(Apr 12, 2012)
no assertion criteria providedVCV000039268
93.
GRCh37:
Chr4:187118743
GRCh38:
Chr4:186197589
CYP4V2R221CBietti crystalline corneoretinal dystrophy, Corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000348305
94.
GRCh37:
Chr4:187118744
GRCh38:
Chr4:186197590
CYP4V2R221HBietti crystalline corneoretinal dystrophy, Corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000348306
95.
GRCh37:
Chr4:187118756
GRCh38:
Chr4:186197602
CYP4V2R225Tnot providedUncertain significance
(Nov 1, 2019)
criteria provided, single submitterVCV000960507
96.
GRCh37:
Chr4:187118770
GRCh38:
Chr4:186197616
CYP4V2Corneal dystrophy, Bietti crystalline corneoretinal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000900596
97.
GRCh37:
Chr4:187118942-187118945
GRCh38:
Chr4:186197788-186197791
CYP4V2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001289410
98.
GRCh37:
Chr4:187120120-187120122
GRCh38:
Chr4:186198966-186198968
CYP4V2M229delnot providedUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV001054346
99.
GRCh37:
Chr4:187120122
GRCh38:
Chr4:186198968
CYP4V2M229Tnot providedUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000942415
100.
GRCh37:
Chr4:187120124
GRCh38:
Chr4:186198970
CYP4V2I230Vnot providedUncertain significance
(Jun 29, 2020)
criteria provided, single submitterVCV000840208
Format
Items per page
Sort by

Download:

Choose Destination
Support Center