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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:66975273
GRCh38:
Chr14:66508555
GPHNHyperekplexia hereditary, HyperekplexiaConflicting interpretations of pathogenicity
(Oct 4, 2012)
no assertion criteria provided
2.
GRCh37:
Chr14:68196055-68196059
GRCh38:
Chr14:67729338-67729342
GPHN, ZFYVE26, RDH12Leber congenital amaurosis 13Pathogenic
(Sep 14, 2016)
criteria provided, single submitter
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