"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 432050	NM_017946.4(FKBP14):c.568_570del (p.Lys190del)	FKBP14, FKBP14-AS1 (K190del)	Deletion (inframe_deletion +1 more)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 681733	NM_017946.4(FKBP14):c.525G>T (p.Val175=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 432169	NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)	FKBP14, FKBP14-AS1 (K166del)	Microsatellite (inframe_deletion +1 more)	FKBP14-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 390831	NM_017946.4(FKBP14):c.375G>C (p.Leu125=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type, 2 +3 more	GBenign/Likely benign
Select item 1702255	NM_017946.4(FKBP14):c.349G>A (p.Gly117Ser)	FKBP14, FKBP14-AS1 (G117S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 390200	NM_017946.4(FKBP14):c.330C>T (p.Gly110=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 384694	NM_017946.4(FKBP14):c.165C>T (p.Tyr55=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome +3 more	GBenign

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