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Results: 2

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
FKBP14Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossPathogenic
(May 12, 2015)
classified by single submitter
2.
FKBP14Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossPathogenic
(Mar 28, 2012)
classified by single submitter