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Results: 2

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PCDH15Usher syndrome, type 1GPathogenic/Likely pathogenic
(Jun 20, 2013)
classified by single submitter1054369200 - 54369201
2.
PCDH15Usher syndrome, type 1G, Retinitis pigmentosa-deafness syndrome, Usher syndrome, type 1F,
Hereditary hearing loss and deafness
GO-ESP:0.00038(A)Pathogenic/Likely pathogenic
(Jun 20, 2013)
classified by multiple submitters1054317414