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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKBP14, FKBP14-AS1
(K190del)
Deletion
(inframe_deletion +1 more)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
Microsatellite
(nonsense +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
(I126V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FKBP14, FKBP14-AS1
(E122fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
FKBP14, FKBP14-AS1
(I119M)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+3 more
GUncertain significance
FKBP14, FKBP14-AS1
(I75S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(G54A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
FKBP14, FKBP14-AS1
(M48I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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