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Results: 1 to 20 of 24

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
AIPL1Leber congenital amaurosis 4, not providedGO-ESP:0.00054(A)
GMAF:0.00140(A)
Pathogenic/Likely pathogenic
(May 2, 2013)
classified by single submitter176425710
2.
AIPL1Leber congenital amaurosis 4, not providedGO-ESP:0.00008(T)Pathogenic/Likely pathogenic
(May 2, 2013)
classified by single submitter176426615
3.
AIPL1Leber congenital amaurosis 4, not providedPathogenic/Likely pathogenic
(May 2, 2013)
classified by single submitter176426906
4.
AIPL1Leber congenital amaurosis 4, not providedPathogenic/Likely pathogenic
(May 2, 2013)
classified by single submitter176426934
5.
AIPL1Leber congenital amaurosis 4, not providedGO-ESP:0.02088(A)
GMAF:0.01290(A)
Pathogenic/Likely pathogenic
(May 2, 2013)
classified by single submitter176425489
6.
CRXLeber congenital amaurosis 7, not providedPathogenic/Likely pathogenic
(May 2, 2013)
classified by single submitter1947839596
7.
RD3Leber congenital amaurosis 12Pathogenic/Likely pathogenic
(Sep 17, 2013)
classified by multiple submitters1211481119
8.
AIPL1Leber congenital amaurosis 4, not providedPathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters176426684
9.
RPGRIP1Cone-rod dystrophy 13, not providedGO-ESP:0.23255(T)
GMAF:0.16160(T)
Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters1421321881
10.
RPGRIP1Cone-rod dystrophy 13, not providedPathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters1421325943
11.
SPATA7Leber congenital amaurosis 3Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters1488437565
12.
SPATA7Leber congenital amaurosis 3GO-ESP:0.00015(T)Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters1488416794
13.
LCA5Leber congenital amaurosis 5GO-ESP:0.00023(A)Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters679493636
14.
LCA5Leber congenital amaurosis 5Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters679487622 - 79487623
15.
AIPL1Leber congenital amaurosis 4, not providedGO-ESP:0.00062(T)
GMAF:0.00000(T)
Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters176425781
16.
SPATA7Leber congenital amaurosis 3Pathogenic/Likely pathogenic
(Sep 24, 2013)
classified by multiple submitters1488438017
17.
LCA5Leber congenital amaurosis 5Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters679489164
18.
ZFYVE26, RDH12Leber congenital amaurosis 13Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters1467729338 - 67729342
19.
SPATA7Leber congenital amaurosis 3Pathogenic/Likely pathogenic
(Sep 24, 2013)
classified by multiple submitters1488429395 - 88429396
20.
CRB1Retinitis pigmentosa 12, Leber congenital amaurosis 8, not provided
GO-ESP:0.00023(A)Pathogenic/Likely pathogenic
(May 2, 2013)
classified by multiple submitters1197434706

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