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Links from MedGen

Items: 70

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:31799738-31799739
GRCh38:
Chr10:31510810-31510811
ZEB1Y116*, Y119*, Y133*, Y140*, Y187*, Y190*, Y191*, Y193*, Y194*, Y207*, Y208*Polymorphous corneal dystrophyLikely pathogenic
(Nov 17, 2020)
criteria provided, single submitter
2.
GRCh37:
Chr20:25062355
GRCh38:
Chr20:25081719
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr20:25062354
GRCh38:
Chr20:25081718
VSX1P127SPolymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr20:25062346
GRCh38:
Chr20:25081710
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr20:25062344
GRCh38:
Chr20:25081708
VSX1G130DInborn genetic diseases, Polymorphous corneal dystrophyUncertain significance
(Mar 23, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr20:25056793
GRCh38:
Chr20:25076157
VSX1Polymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr20:25056785
GRCh38:
Chr20:25076149
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr20:25056728
GRCh38:
Chr20:25076092
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr20:25056501
GRCh38:
Chr20:25075865
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr20:25056481
GRCh38:
Chr20:25075845
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr20:25060090
GRCh38:
Chr20:25079454
VSX1R162KPolymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr20:25056287
GRCh38:
Chr20:25075651
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr20:25059535
GRCh38:
Chr20:25078899
VSX1A186VPolymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr20:25059514
GRCh38:
Chr20:25078878
VSX1A193VPolymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr20:25059480
GRCh38:
Chr20:25078844
VSX1Polymorphous corneal dystrophy, not providedBenign/Likely benign
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr20:25058514
GRCh38:
Chr20:25077878
VSX1Polymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr20:25058412
GRCh38:
Chr20:25077776
VSX1Polymorphous corneal dystrophyBenign
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr20:25062652
GRCh38:
Chr20:25082016
VSX1Polymorphous corneal dystrophyBenign
(Apr 20, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr20:25062650
GRCh38:
Chr20:25082014
VSX1P28LPolymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr20:25058361
GRCh38:
Chr20:25077725
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr20:25057124
GRCh38:
Chr20:25076488
VSX1L60F, L291FPolymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr20:25056833
GRCh38:
Chr20:25076197
VSX1Polymorphous corneal dystrophyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr20:25058505
GRCh38:
Chr20:25077869
VSX1not provided, Polymorphous corneal dystrophyBenign/Likely benign
(Mar 30, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr20:25062568
GRCh38:
Chr20:25081932
VSX1C55*Polymorphous corneal dystrophy, not providedUncertain significance
(Jun 29, 2018)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:31809236
GRCh38:
Chr10:31520308
ZEB1R325*, R237*, R305*, R311*, R251*, R309*, R234*, R107*, R258*, R308*, R312*, R326*not provided, Polymorphous corneal dystrophy, Visual loss,
Glaucoma
Pathogenic
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr20:25063021
GRCh38:
Chr20:25082385
VSX1Polymorphous corneal dystrophyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr20:25063003
GRCh38:
Chr20:25082367
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr20:25062984-25062993
GRCh38:
Chr20:25082348-25082357
VSX1Polymorphous corneal dystrophyBenign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr20:25062984-25062988
GRCh38:
Chr20:25082348-25082352
VSX1Polymorphous corneal dystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr20:25062976
GRCh38:
Chr20:25082340
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr20:25062971
GRCh38:
Chr20:25082335
VSX1Polymorphous corneal dystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr20:25062929
GRCh38:
Chr20:25082293
VSX1Polymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr20:25062907
GRCh38:
Chr20:25082271
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr20:25062793
GRCh38:
Chr20:25082157
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr20:25062673
GRCh38:
Chr20:25082037
VSX1Polymorphous corneal dystrophyBenign
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr20:25062560
GRCh38:
Chr20:25081924
VSX1P58LKeratoconus, Polymorphous corneal dystrophy, not specified,
not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr20:25062559
GRCh38:
Chr20:25081923
VSX1Polymorphous corneal dystrophy, not providedBenign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr20:25062452
GRCh38:
Chr20:25081816
VSX1A94EPolymorphous corneal dystrophy, Inborn genetic diseasesUncertain significance
(Apr 25, 2023)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr20:25062418
GRCh38:
Chr20:25081782
VSX1D105EPolymorphous corneal dystrophy, not providedBenign
(Jul 3, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr20:25062394
GRCh38:
Chr20:25081758
VSX1Polymorphous corneal dystrophy, not providedBenign
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr20:25062342
GRCh38:
Chr20:25081706
VSX1R131SPolymorphous corneal dystrophy, not providedBenign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr20:25060123
GRCh38:
Chr20:25079487
VSX1N151SPolymorphous corneal dystrophy, not specifiedConflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr20:25060101
GRCh38:
Chr20:25079465
VSX1Polymorphous corneal dystrophyBenign
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr20:25060096
GRCh38:
Chr20:25079460
VSX1G160VPolymorphous corneal dystrophy, not providedBenign/Likely benign
(Aug 20, 2018)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr20:25060078
GRCh38:
Chr20:25079442
VSX1R166QPolymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr20:25059564
GRCh38:
Chr20:25078928
VSX1Polymorphous corneal dystrophy, not providedBenign
(Dec 5, 2018)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr20:25058398
GRCh38:
Chr20:25077762
VSX1H244R, H13RPolymorphous corneal dystrophy, not provided, Keratoconus 1
Conflicting interpretations of pathogenicity
(Oct 9, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr20:25058389
GRCh38:
Chr20:25077753
VSX1P247R, P16RPolymorphous corneal dystrophy, not provided, Keratoconus 1,
Craniofacial anomalies and anterior segment dysgenesis syndrome
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr20:25057191-25057192
GRCh38:
Chr20:25076555-25076556
VSX1Polymorphous corneal dystrophyBenign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr20:25056894
GRCh38:
Chr20:25076258
VSX1Polymorphous corneal dystrophyLikely benign
(Apr 27, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr20:25056809
GRCh38:
Chr20:25076173
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr20:25056808
GRCh38:
Chr20:25076172
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr20:25056738
GRCh38:
Chr20:25076102
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr20:25056698
GRCh38:
Chr20:25076062
VSX1Polymorphous corneal dystrophyBenign
(Jan 12, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr20:25056697
GRCh38:
Chr20:25076061
VSX1Polymorphous corneal dystrophyBenign
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr20:25056674
GRCh38:
Chr20:25076038
VSX1Polymorphous corneal dystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr20:25056444
GRCh38:
Chr20:25075808
VSX1Polymorphous corneal dystrophyBenign
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr20:25056401
GRCh38:
Chr20:25075765
VSX1Polymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr20:25056391
GRCh38:
Chr20:25075755
VSX1Polymorphous corneal dystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr20:25056153
GRCh38:
Chr20:25075517
VSX1Polymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr20:25056152
GRCh38:
Chr20:25075516
VSX1Polymorphous corneal dystrophyBenign
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr20:25056148
GRCh38:
Chr20:25075512
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr20:25056077
GRCh38:
Chr20:25075441
VSX1Polymorphous corneal dystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr20:25062715
GRCh38:
Chr20:25082079
VSX1not provided, Polymorphous corneal dystrophy, not specified
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr20:25059546
GRCh38:
Chr20:25078910
VSX1Polymorphous corneal dystrophy, not specified, not provided
Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr20:25060143
GRCh38:
Chr20:25079507
VSX1D144EPolymorphous corneal dystrophy, not providedBenign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr20:25062683
GRCh38:
Chr20:25082047
VSX1L17PPolymorphous corneal dystrophyLikely benign
(Apr 27, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr20:25060100
GRCh38:
Chr20:25079464
VSX1L159MPolymorphous corneal dystrophyLikely benign
(Apr 27, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr20:25060096
GRCh38:
Chr20:25079460
VSX1G160DPolymorphous corneal dystrophy, not provided, not specified
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr20:25060079
GRCh38:
Chr20:25079443
VSX1R166WPolymorphous corneal dystrophyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
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