"GeneDx"[submitter] AND "XYLT2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 1227828	NC_000017.11:g.50345953G>A	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 1294957	NC_000017.11:g.50346057G>C	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 1179491	NC_000017.11:g.50346057G>A	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 1264676	NC_000017.11:g.50346069G>C	LOC130061159, XYLT2	Single nucleotide variant	not provided	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 1251286	NM_022167.4(XYLT2):c.135+98G>C	LOC130061161, XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261063	NM_022167.4(XYLT2):c.136-27A>C	XYLT2	Single nucleotide variant (intron variant)	not provided	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 432765	NM_022167.4(XYLT2):c.611G>A (p.Arg204Gln)	XYLT2 (R204Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1250682	NM_022167.4(XYLT2):c.804+98_804+99insA	XYLT2	Insertion (intron variant)	not provided	GBenign
Select item 1239389	NM_022167.4(XYLT2):c.804+126A>G	XYLT2	Single nucleotide variant (intron variant)	not provided	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 1181315	NM_022167.4(XYLT2):c.1008-181G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290472	NM_022167.4(XYLT2):c.1008-113G>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251360	NM_022167.4(XYLT2):c.1089-61G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1619313	NM_022167.4(XYLT2):c.1253C>T (p.Pro418Leu)	XYLT2 (P418L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 1227533	NM_022167.4(XYLT2):c.1305+29G>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245893	NM_022167.4(XYLT2):c.1482+81A>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220663	NM_022167.4(XYLT2):c.1483-98C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	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 1182581	NM_022167.4(XYLT2):c.1941+67G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240598	NM_022167.4(XYLT2):c.1941+126C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278911	NM_022167.4(XYLT2):c.1942-117A>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289251	NM_022167.4(XYLT2):c.2276-37G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	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
Select item 2430623	NM_022167.4(XYLT2):c.2587C>T (p.Arg863Ter)	XYLT2 (R863*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30