"GeneDx"[submitter] AND "XYLT1"[gene] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168620	NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln)	XYLT1 (R892Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 684362	NM_022166.4(XYLT1):c.2655C>T (p.Pro885=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 2502637	NM_022166.4(XYLT1):c.2639G>A (p.Ser880Asn)	XYLT1 (S880N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167692	NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1117432	NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)	XYLT1 (E854A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1282182	NM_022166.4(XYLT1):c.2558-90A>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221311	NM_022166.4(XYLT1):c.2558-91C>T	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291776	NM_022166.4(XYLT1):c.2557+269T>C	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263391	NM_022166.4(XYLT1):c.2557+256A>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230210	NM_022166.4(XYLT1):c.2557+187G>A	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169572	NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile)	XYLT1 (V839I)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 2502611	NM_022166.4(XYLT1):c.2413T>A (p.Phe805Ile)	XYLT1 (F805I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308543	NM_022166.4(XYLT1):c.2410G>A (p.Glu804Lys)	XYLT1 (E804K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307462	NM_022166.4(XYLT1):c.2352G>T (p.Trp784Cys)	XYLT1 (W784C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169573	NM_022166.4(XYLT1):c.2331T>C (p.Asn777=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1313400	NM_022166.4(XYLT1):c.2269G>C (p.Gly757Arg)	XYLT1 (G757R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170358	NM_022166.4(XYLT1):c.2224-12C>T	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 1230562	NM_022166.4(XYLT1):c.2224-106C>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273800	NM_022166.4(XYLT1):c.2224-146C>A	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273204	NM_022166.4(XYLT1):c.2223+215T>A	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271979	NM_022166.4(XYLT1):c.2223+100G>A	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452883	NM_022166.4(XYLT1):c.2122_2123del (p.Ala708fs)	XYLT1 (A708fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1244526	NM_022166.4(XYLT1):c.2028-37A>C	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 2 +1 more	GBenign
Select item 1273045	NM_022166.4(XYLT1):c.2028-183T>C	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277436	NM_022166.4(XYLT1):c.2028-269G>T	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249172	NM_022166.4(XYLT1):c.2027+240C>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170431	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)	LOC102723692, XYLT1 (T665M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1168621	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1374204	NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln)	LOC102723692, XYLT1 (R662Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1358513	NM_022166.4(XYLT1):c.1807G>A (p.Val603Met)	LOC102723692, XYLT1 (V603M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1282842	NM_022166.4(XYLT1):c.1765-215_1765-212dup	LOC102723692, XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1249272	NM_022166.4(XYLT1):c.1764+307_1764+308insTCT	LOC102723692, XYLT1	Insertion (intron variant)	not provided	GBenign
Select item 1288230	NM_022166.4(XYLT1):c.1764+175_1764+191dup	LOC102723692, XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1280010	NM_022166.4(XYLT1):c.1764+125_1764+128del	LOC102723692, XYLT1	Microsatellite (intron variant)	not provided	GBenign
Select item 790928	NM_022166.4(XYLT1):c.1743G>A (p.Pro581=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +1 more	GBenign/Likely benign
Select item 426319	NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)	LOC102723692, XYLT1	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1307685	NM_022166.4(XYLT1):c.1633A>G (p.Met545Val)	LOC102723692, XYLT1 (M545V)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GUncertain significance
Select item 127238	NM_022166.4(XYLT1):c.1588-3C>T	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GLikely benign
Select item 1683950	NM_022166.4(XYLT1):c.1588-58C>A	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1706931	NM_022166.4(XYLT1):c.1588-93A>G	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1683949	NM_022166.4(XYLT1):c.1587+46T>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723791	NM_022166.4(XYLT1):c.1334T>C (p.Met445Thr)	XYLT1 (M445T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1320352	NM_022166.4(XYLT1):c.1290-92G>A	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255017	NM_022166.4(XYLT1):c.1289+271A>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239334	NM_022166.4(XYLT1):c.1289+185G>C	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170238	NM_022166.4(XYLT1):c.1284C>G (p.Pro428=)	XYLT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1512372	NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn)	XYLT1 (D426N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1211235	NM_022166.4(XYLT1):c.1087-292T>C	XYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279340	NM_022166.4(XYLT1):c.1086+255dup	XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1197897	NM_022166.4(XYLT1):c.1086+255_1086+256dup	XYLT1	Duplication (intron variant)	not provided	GLikely benign
Select item 1244065	NM_022166.4(XYLT1):c.1086+44G>A	XYLT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1164905	NM_022166.4(XYLT1):c.1077C>T (p.His359=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign/Likely benign
Select item 1224171	NM_022166.4(XYLT1):c.913+281C>T	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200497	NM_022166.4(XYLT1):c.913+161A>G	XYLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238255	NM_022166.4(XYLT1):c.913+29G>C	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166614	NM_022166.4(XYLT1):c.913+9C>T	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1168622	NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly)	XYLT1 (A223G)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 373449	NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)	LOC130058566, XYLT1 (R141W)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1261406	NM_022166.4(XYLT1):c.364-79GAAA[2]	XYLT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1225229	NM_022166.4(XYLT1):c.364-95dup	XYLT1	Duplication (intron variant)	not provided	GBenign
Select item 1272858	NM_022166.4(XYLT1):c.363+214G>T	XYLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2534	NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)	XYLT1 (A115S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2 +2 more	GBenign
Select item 577084	NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)	XYLT1 (G52S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280402	NM_022166.4(XYLT1):c.62del (p.Ala21fs)	XYLT1 (A21fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1230844	NM_022166.4(XYLT1):c.-5C>G	XYLT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1295028	NC_000016.10:g.17470961G>A	XYLT1	Single nucleotide variant	not provided	GBenign
Select item 254025	GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3	ABCC1, ABCC6 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253892	GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3	ABCC1, ABCC6 +8 more	Copy number gain	See cases	GUncertain significance
Select item 253598	GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1	ABCC1, ABCC6 +8 more	Copy number loss	See cases	GPathogenic
Select item 3361367	NM_022166.4(XYLT1):c.2714G>A (p.Trp905Ter)	XYLT1 (W905*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 70