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Items: 24

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:88443060
GRCh38:
Chr12:88049283
CEP290, C12orf29not providednot providedno assertion provided
2.
GRCh37:
Chr12:88456495
GRCh38:
Chr12:88062718
CEP290not providednot providedno assertion provided
3.
GRCh37:
Chr12:88465596-88465600
GRCh38:
Chr12:88071819-88071823
CEP290not providednot providedno assertion provided
4.
GRCh37:
Chr12:88471040
GRCh38:
Chr12:88077263
CEP290Leber congenital amaurosis 10, Meckel-Gruber syndrome, Joubert syndrome 5,
not provided
Pathogenic
(Feb 23, 2015)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr12:88471059
GRCh38:
Chr12:88077282
CEP290not providednot providedno assertion provided
6.
GRCh37:
Chr12:88471542-88471545
GRCh38:
Chr12:88077765-88077768
CEP290not providednot providedno assertion provided
7.
GRCh37:
Chr12:88471636
GRCh38:
Chr12:88077859
CEP290not providednot providedno assertion provided
8.
GRCh37:
Chr12:88476854
GRCh38:
Chr12:88083077
CEP290not provided, CEP290-Related DisordersLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:88477665
GRCh38:
Chr12:88083888
CEP290not providednot providedno assertion provided
10.
GRCh37:
Chr12:88477704
GRCh38:
Chr12:88083927
CEP290not providednot providedno assertion provided
11.
GRCh37:
Chr12:88478411
GRCh38:
Chr12:88084634
CEP290not providednot providedno assertion provided
12.
GRCh37:
Chr12:88481635-88481636
GRCh38:
Chr12:88087858-88087859
CEP290not providednot providedno assertion provided
13.
GRCh37:
Chr12:88483024
GRCh38:
Chr12:88089247
CEP290not providednot providedno assertion provided
14.
GRCh37:
Chr12:88487680
GRCh38:
Chr12:88093903
CEP290not providednot providedno assertion provided
15.
GRCh37:
Chr12:88487681
GRCh38:
Chr12:88093904
CEP290Meckel-Gruber syndrome, Joubert syndrome 5, not provided
Pathogenic
(Feb 23, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:88494960
GRCh38:
Chr12:88101183
CEP290Leber congenital amaurosis 10, Joubert syndrome 5, not provided
Pathogenic
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:88505124-88505132
GRCh38:
Chr12:88111347-88111355
CEP290not providednot providedno assertion provided
18.
GRCh37:
Chr12:88505566-88505570
GRCh38:
Chr12:88111789-88111793
CEP290not providednot providedno assertion provided
19.
GRCh37:
Chr12:88505633
GRCh38:
Chr12:88111856
CEP290Bardet-Biedl syndrome, Joubert syndrome, Meckel-Gruber syndrome,
Renal dysplasia and retinal aplasia, Leber congenital amaurosis, not specified,
not provided
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:88512493
GRCh38:
Chr12:88118716
CEP290not providednot providedno assertion provided
21.
GRCh37:
Chr12:88523643-88523644
GRCh38:
Chr12:88129866-88129867
CEP290not providednot providedno assertion provided
22.
GRCh37:
Chr12:88532954
GRCh38:
Chr12:88139177
CEP290not providednot providedno assertion provided
23.
GRCh37:
Chr12:88533342
GRCh38:
Chr12:88139565
CEP290not providednot providedno assertion provided
24.
GRCh37:
Chr12:88535064
GRCh38:
Chr12:88141287
CEP290Joubert syndrome 5, not providedPathogenic
(Feb 23, 2015)
criteria provided, single submitter
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