ClinVar for MedGen (Select 900371) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064120	NM_022167.4(XYLT2):c.2443G>T (p.Glu815Ter)	XYLT2 (E815*)	Single nucleotide variant (nonsense +1 more)	Spondylo-ocular syndrome	GUncertain significance
Select item 2570659	NM_022167.4(XYLT2):c.1584del (p.Gly529fs)	XYLT2 (G529fs)	Deletion (frameshift variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
Select item 1921989	NM_022167.4(XYLT2):c.1924C>T (p.Arg642Trp)	XYLT2 (R642W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1289379	NM_022167.4(XYLT2):c.914G>C (p.Arg305Thr)	XYLT2 (R305T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1279201	NM_022167.4(XYLT2):c.1938G>A (p.Leu646=)	XYLT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1274419	NM_022167.4(XYLT2):c.342C>T (p.Pro114=)	XYLT2	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylo-ocular syndrome +1 more	GBenign
Select item 1243238	NM_022167.4(XYLT2):c.177G>A (p.Glu59=)	XYLT2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 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 1030800	NM_022167.4(XYLT2):c.749G>A (p.Arg250His)	XYLT2 (R250H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 974777	NM_022167.4(XYLT2):c.1552del (p.Leu518fs)	XYLT2 (L518fs)	Deletion (frameshift variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
Select item 804420	NM_022167.4(XYLT2):c.1584dup (p.Gly529fs)	XYLT2 (G529fs)	Duplication (frameshift variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
Select item 709151	NM_022167.4(XYLT2):c.922C>T (p.Leu308=)	XYLT2	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylo-ocular syndrome +2 more	GBenign
Select item 548446	NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn)	XYLT2 (D850N)	Single nucleotide variant (missense variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
Select item 207978	NM_022167.4(XYLT2):c.520del (p.Ala174fs)	XYLT2 (A174fs)	Deletion (frameshift variant +1 more)	Spondylo-ocular syndrome	GPathogenic
Select item 207977	NM_022167.4(XYLT2):c.692dup (p.Val232fs)	XYLT2 (V232fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 2533	NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg)	XYLT2 (T801R)	Single nucleotide variant (missense variant +1 more)	Spondylo-ocular syndrome +2 more	GBenign