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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKBP14, FKBP14-AS1
(E191del)
Microsatellite
(inframe_deletion +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GPathogenic
FKBP14, FKBP14-AS1
(E122fs)
Duplication
(frameshift variant +1 more)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
FKBP14, FKBP14-AS1
(M48K)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Gnot provided
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