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Items: 1 to 100 of 473

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:88534809
GRCh38:
Chr12:88141032
CEP290V35GCEP290-related condition, Joubert syndrome 5Uncertain significance
(Oct 3, 2023)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr12:88520219
Chr12:88520223
GRCh38:
Chr12:88126442
Chr12:88126446
CEP290, CEP290Senior-Loken syndrome 6, Joubert syndrome 5, Meckel syndrome, type 4,
Leber congenital amaurosis 10		Uncertain significance
(Feb 11, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr12:88476954-88476960
GRCh38:
Chr12:88083177-88083183
CEP290Leber congenital amaurosis 10, Joubert syndrome 5, Meckel syndrome, type 4,
Senior-Loken syndrome 6		Uncertain significance
(Mar 14, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr12:88444184
GRCh38:
Chr12:88050407
CEP290K2386E, K1446EJoubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Familial aplasia of the vermis, Nephronophthisis,
Meckel-Gruber syndrome		Uncertain significance
(Jan 11, 2023)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr12:88487605
GRCh38:
Chr12:88093828
CEP290R144Q, R1084QCEP290-related condition, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Senior-Loken syndrome 6, Joubert syndrome 5, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis		Uncertain significance
(Apr 28, 2023)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:88443114-88443115
GRCh38:
Chr12:88049337-88049338
CEP290, RLIG1Y2429*Joubert syndrome 5, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Nephronophthisis		Pathogenic
(Jun 24, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:88481649
GRCh38:
Chr12:88087872
CEP290D1368HJoubert syndrome 5Uncertain significance
(Feb 4, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr12:88476955
GRCh38:
Chr12:88083178
CEP290R1622Hnot specified, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Nephronophthisis, Leber congenital amaurosis 10, Joubert syndrome 5,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Meckel syndrome, type 4
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:88483080
GRCh38:
Chr12:88089303
CEP290R1253HFamilial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5, not specified
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:88478468
GRCh38:
Chr12:88084691
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5		Likely benign
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:88453812-88453814
GRCh38:
Chr12:88060035-88060037
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:88530406
GRCh38:
Chr12:88136629
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:88474191-88474192
GRCh38:
Chr12:88080414-88080415
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:88444226
GRCh38:
Chr12:88050449
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr12:88525015-88525018
GRCh38:
Chr12:88131238-88131241
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr12:88534970
GRCh38:
Chr12:88141193
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Dec 22, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:88530402
GRCh38:
Chr12:88136625
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr12:88462407
GRCh38:
Chr12:88068630
CEP290Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10		Likely benign
(Apr 26, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr12:88525014-88525015
GRCh38:
Chr12:88131237-88131238
CEP290Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Likely benign
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:88447421
GRCh38:
Chr12:88053644
CEP290Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Likely benign
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr12:88473974
GRCh38:
Chr12:88080197
CEP290Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr12:88457739
GRCh38:
Chr12:88063962
CEP290Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Likely benign
(Oct 15, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr12:88477738
GRCh38:
Chr12:88083961
CEP290Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Leber congenital amaurosis 10, Joubert syndrome 5,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4		Likely benign
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr12:88532979
GRCh38:
Chr12:88139202
CEP290Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5		Benign/Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr12:88502878
GRCh38:
Chr12:88109101
CEP290Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr12:88482995
GRCh38:
Chr12:88089218
CEP290Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5		Likely benign
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:88534981
GRCh38:
Chr12:88141204
CEP290Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
CEP290-Related Disorders, Meckel syndrome, type 4, Leber congenital amaurosis 10,
Senior-Loken syndrome 6, Joubert syndrome 5, Bardet-Biedl syndrome 14
Likely pathogenic
(Mar 22, 2023)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr12:88484556-88484558
GRCh38:
Chr12:88090779-88090781
CEP290Q1174delLeber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, CEP290-related condition,
Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis
Uncertain significance
(Feb 8, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:88481735
GRCh38:
Chr12:88087958
CEP290Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr12:88496679
GRCh38:
Chr12:88102902
CEP290Y976CMeckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis		Uncertain significance
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:88505521
GRCh38:
Chr12:88111744
CEP290R723WMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14		Uncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:88514773
GRCh38:
Chr12:88120996
CEP290Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14		Likely pathogenic
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr12:88535016-88535018
GRCh38:
Chr12:88141239-88141241
CEP290E23delJoubert syndrome 5, Nephronophthisis, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:88524181
GRCh38:
Chr12:88130404
CEP290Q178RMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14		Uncertain significance
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr12:88505128
GRCh38:
Chr12:88111351
CEP290I740VLeber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, CEP290-related condition,
Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis
Uncertain significance
(Dec 28, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:88514941
GRCh38:
Chr12:88121164
CEP290A398SNephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Senior-Loken syndrome 6, Joubert syndrome 5, Leber congenital amaurosis 10,
Meckel syndrome, type 4		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:88453749
GRCh38:
Chr12:88059972
CEP290H2191DLeber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, not provided,
CEP290-related condition, Meckel-Gruber syndrome, Nephronophthisis,
Familial aplasia of the vermis		Uncertain significance
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr12:88523568
GRCh38:
Chr12:88129791
CEP290K252MLeber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, CEP290-related condition,
Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis
Uncertain significance
(Apr 28, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:88482889
GRCh38:
Chr12:88089112
CEP290K1317ENephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Senior-Loken syndrome 6, Joubert syndrome 5, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14		Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:88480163
GRCh38:
Chr12:88086386
CEP290Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Uncertain significance
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:88508954
GRCh38:
Chr12:88115177
CEP290E610fsLeber congenital amaurosis 10, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Joubert syndrome 5, Nephronophthisis,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Pathogenic
(Oct 9, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:88512418
GRCh38:
Chr12:88118641
CEP290Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Joubert syndrome 5,
Leber congenital amaurosis 10, Meckel syndrome, type 4		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:88487653
GRCh38:
Chr12:88093876
CEP290N1068SMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14		Uncertain significance
(Mar 6, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:88524130
GRCh38:
Chr12:88130353
CEP290L195fsMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14		Pathogenic/Likely pathogenic
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr12:88478370
GRCh38:
Chr12:88084593
CEP290A1566VInborn genetic diseases, Nephronophthisis, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4
Uncertain significance
(Mar 29, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:88487579
GRCh38:
Chr12:88093802
CEP290R1093CMeckel syndrome, type 4, Senior-Loken syndrome 6, Joubert syndrome 5,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis, CEP290-related condition
Uncertain significance
(Jun 22, 2023)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr12:88465608
GRCh38:
Chr12:88071831
CEP290E1935DMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14		Uncertain significance
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr12:88487571
GRCh38:
Chr12:88093794
CEP290F1095fsMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14		Pathogenic/Likely pathogenic
(Jul 2, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:88444142
GRCh38:
Chr12:88050365
CEP290Q2400EMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:88453696
GRCh38:
Chr12:88059919
CEP290R2208SMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14		Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:88443137-88443138
GRCh38:
Chr12:88049360-88049361
CEP290, RLIG1E2422*Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14		Pathogenic/Likely pathogenic
(Feb 7, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:88496742
GRCh38:
Chr12:88102965
CEP290N955SLeber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Nephronophthisis, Familial aplasia of the vermis		Uncertain significance
(Jul 17, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr12:88519043
GRCh38:
Chr12:88125266
CEP290N390SMeckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14		Uncertain significance
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:88505113
GRCh38:
Chr12:88111336
CEP290K745ELeber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Nephronophthisis, Familial aplasia of the vermis		Uncertain significance
(Nov 12, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:88482939
GRCh38:
Chr12:88089162
CEP290I1300TLeber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Nephronophthisis, Familial aplasia of the vermis		Uncertain significance
(Feb 17, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr12:88522761
GRCh38:
Chr12:88128984
CEP290I302VMeckel syndrome, type 4, Senior-Loken syndrome 6, Joubert syndrome 5,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis, CEP290-related condition
Uncertain significance
(Feb 8, 2023)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:88502838
GRCh38:
Chr12:88109061
CEP290Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14		Uncertain significance
(Jan 7, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr12:88510869
GRCh38:
Chr12:88117092
CEP290I589LMeckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14		Uncertain significance
(Feb 16, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr12:88490748
GRCh38:
Chr12:88096971
CEP290V1007AMeckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:88487599
GRCh38:
Chr12:88093822
CEP290S1086LLeber congenital amaurosis 10, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Joubert syndrome 5, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:88484560
GRCh38:
Chr12:88090783
CEP290Q1173PMeckel syndrome, type 4, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6		Uncertain significancecriteria provided, single submitter
62.
GRCh37:
Chr12:88444142
GRCh38:
Chr12:88050365
CEP290Q2400*Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
CEP290-Related Disorders, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Joubert syndrome 5
Pathogenic/Likely pathogenic
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:88477700
GRCh38:
Chr12:88083923
CEP290E1579Vnot provided, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Senior-Loken syndrome 6, Joubert syndrome 5, Bardet-Biedl syndrome 14
Uncertain significance
(Feb 17, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:88500497
GRCh38:
Chr12:88106720
CEP290M924Inot provided, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5
Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr12:88523584
GRCh38:
Chr12:88129807
CEP290V247IInborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5,
not provided		Uncertain significance
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:88449454
GRCh38:
Chr12:88055677
CEP290A2287TMeckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Senior-Loken syndrome 6, Joubert syndrome 5, not provided
Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:88487689-88487694
GRCh38:
Chr12:88093912-88093917
CEP290not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5
Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr12:88505066-88505067
GRCh38:
Chr12:88111289-88111290
CEP290Joubert syndrome 5Likely pathogenic
(Apr 8, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr12:88514823
GRCh38:
Chr12:88121046
CEP290K437fsJoubert syndrome 5Likely pathogenic
(Jul 22, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr12:88453608
GRCh38:
Chr12:88059831
CEP290not provided, Meckel syndrome, type 4, Joubert syndrome 5,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14		Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:88453686
GRCh38:
Chr12:88059909
CEP290E2212KJoubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Bardet-Biedl syndrome 14		Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
72.
GRCh37:
Chr12:88456549
GRCh38:
Chr12:88062772
CEP290, LOC129390514V2093IMeckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14		Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
73.
GRCh37:
Chr12:88523611
GRCh38:
Chr12:88129834
CEP290E238*not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Nephronophthisis, Leber congenital amaurosis 10, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Meckel syndrome, type 4, Joubert syndrome 5
Pathogenic
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr12:88490683
GRCh38:
Chr12:88096906
CEP290E1029*Leber congenital amaurosis 10, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Joubert syndrome 5		Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr12:88473019-88473020
GRCh38:
Chr12:88079242-88079243
CEP290Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Joubert syndrome 5, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr12:88476939
GRCh38:
Chr12:88083162
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr12:88481656
GRCh38:
Chr12:88087879
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:88533333
GRCh38:
Chr12:88139556
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:88534992
GRCh38:
Chr12:88141215
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr12:88453678
GRCh38:
Chr12:88059901
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr12:88508272
GRCh38:
Chr12:88114495
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Apr 21, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:88510931
GRCh38:
Chr12:88117154
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Jun 25, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:88457772
GRCh38:
Chr12:88063995
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr12:88462289
GRCh38:
Chr12:88068512
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr12:88477627
GRCh38:
Chr12:88083850
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Nephronophthisis, Meckel-Gruber syndrome		Likely benign
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr12:88462367
GRCh38:
Chr12:88068590
CEP290Joubert syndrome 5, Bardet-Biedl syndrome 14, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Conflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr12:88452746
GRCh38:
Chr12:88058969
CEP290Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4		Likely benign
(Apr 9, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:88479936
GRCh38:
Chr12:88086159
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Likely benign
(Sep 10, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr12:88456570
GRCh38:
Chr12:88062793
CEP290, LOC129390514Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Meckel syndrome, type 4, Joubert syndrome 5, Leber congenital amaurosis 10,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14		Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:88524165
GRCh38:
Chr12:88130388
CEP290Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4		Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:88457878
GRCh38:
Chr12:88064101
CEP290Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis		Likely benign
(Mar 24, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr12:88443060
GRCh38:
Chr12:88049283
CEP290, RLIG1K2447fsJoubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4, not provided,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis
Pathogenic/Likely pathogenic
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr12:88524130-88524131
GRCh38:
Chr12:88130353-88130354
CEP290L195fsMeckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis		Pathogenic/Likely pathogenic
(Dec 16, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:88514878-88514879
GRCh38:
Chr12:88121101-88121102
CEP290K419fsFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Senior-Loken syndrome 6, Joubert syndrome 5		Pathogenic/Likely pathogenic
(Apr 5, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:88443077
GRCh38:
Chr12:88049300
CEP290, RLIG1E2442*Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Senior-Loken syndrome 6, Joubert syndrome 5		Pathogenic/Likely pathogenic
(Jun 25, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:88483129-88483130
GRCh38:
Chr12:88089352-88089353
CEP290R1237fsFamilial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Meckel syndrome, type 4		Pathogenic/Likely pathogenic
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:88481661
GRCh38:
Chr12:88087884
CEP290E1364*Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
not provided, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Senior-Loken syndrome 6, Joubert syndrome 5
Pathogenic
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr12:88484583-88484584
GRCh38:
Chr12:88090806-88090807
CEP290V1166fsMeckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis		Pathogenic/Likely pathogenic
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:88453750
GRCh38:
Chr12:88059973
CEP290M2190IMeckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Meckel syndrome, type 4, Joubert syndrome 5,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6		Uncertain significance
(May 24, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:88502886
GRCh38:
Chr12:88109109
CEP290V814LMeckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Meckel syndrome, type 4, Joubert syndrome 5,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
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