"Genome-Nilou Lab"[submitter] AND "XYLT2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277109	NM_022167.4(XYLT2):c.30G>T (p.Leu10=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	Spondylo-ocular syndrome +2 more	GBenign
Select item 1243238	NM_022167.4(XYLT2):c.177G>A (p.Glu59=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1274419	NM_022167.4(XYLT2):c.342C>T (p.Pro114=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	Spondylo-ocular syndrome +1 more	GBenign
Select item 1289379	NM_022167.4(XYLT2):c.914G>C (p.Arg305Thr)	XYLT2 (R305T)	Single nucleotide variant (missense variant +1 more)	Spondylo-ocular syndrome +1 more	GBenign
Select item 709151	NM_022167.4(XYLT2):c.922C>T (p.Leu308=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +2 more	GBenign
Select item 1227335	NM_022167.4(XYLT2):c.1569T>C (p.Tyr523=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	Spondylo-ocular syndrome +2 more	GBenign
Select item 1279201	NM_022167.4(XYLT2):c.1938G>A (p.Leu646=)	XYLT2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +2 more	GBenign
Select item 2533	NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg)	XYLT2 (T801R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +2 more	GBenign

ClinVar