U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKBP14, FKBP14-AS1
(E191del)
Microsatellite
(inframe_deletion +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GPathogenic
FKBP14, FKBP14-AS1
(E122fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
FKBP14, FKBP14-AS1
(M48K)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Gnot provided
Format
Sort by
Choose Destination