"Genome-Nilou Lab"[submitter] AND "XYLT1"[gene] - ClinVar - NCBI

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Items: 15

	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 1167692	NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	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 1169573	NM_022166.4(XYLT1):c.2331T>C (p.Asn777=)	XYLT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +2 more	GBenign
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 1244526	NM_022166.4(XYLT1):c.2028-37A>C	XYLT1	Single nucleotide variant (intron variant)	Desbuquois dysplasia 2 +1 more	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 1170238	NM_022166.4(XYLT1):c.1284C>G (p.Pro428=)	XYLT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 2534	NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser)	XYLT1 (A115S)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 2 +2 more	GBenign