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Gene: XYLT1 & Disease: DBQD1, 379 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2137795	XYLT1	c.2026C>T	p.Arg676Ter (p.R676X)	NM_022166.4 M	SNV	P	1 +	3
1168622	XYLT1	c.668C>G	p.Ala223Gly (p.A223G)	NM_022166.4 M	SNV	B	2 +	2
1166614	XYLT1	c.913+9C>T	--	NM_022166.4 M	SNV	B	2 +	2
961741	XYLT1	c.1086+4A>G	--	NM_022166.4 M	SNV	VUS	1 +	2
1164905	XYLT1	c.1077C>T	p.His359= (p.H359=)	NM_022166.4 M	SNV	LB	2 +	2
1170238	XYLT1	c.1284C>G	p.Pro428= (p.P428=)	NM_022166.4 M	SNV	B	2 +	2
958408	XYLT1	c.1321C>T	p.Arg441Ter (p.R441X)	NM_022166.4 M	SNV	P	1 +	2
1501860	XYLT1	c.1370+5C>T	--	NM_022166.4 M	SNV	VUS	1 +	2
1307685	XYLT1	c.1633A>G	p.Met545Val (p.M545V)	NM_022166.4 M	SNV	VUS	1 +	2
573227	XYLT1	c.1756C>T	p.Arg586Cys (p.R586C)	NM_022166.4 M	SNV	VUS	3 +	2
1407697	XYLT1	c.1764+4A>G	--	NM_022166.4 M	SNV	VUS	1 +	2
1025388	XYLT1	c.1764+3G>A	--	NM_022166.4 M	SNV	VUS	1 +	2
1168621	XYLT1	c.1989C>T	p.Ala663= (p.A663=)	NM_022166.4 M	SNV	B	2 +	2
1170431	XYLT1	c.1994C>T	p.Thr665Met (p.T665M)	NM_022166.4 M	SNV	B	2 +	2
2142099	XYLT1	c.2027G>A	p.Arg676Gln (p.R676Q)	NM_022166.4 M	SNV	VUS	1 +	2
1474114	XYLT1	c.2223+6A>C	--	NM_022166.4 M	SNV	VUS	1 +	2
1169573	XYLT1	c.2331T>C	p.Asn777= (p.N777=)	NM_022166.4 M	SNV	B	2 +	2
1169572	XYLT1	c.2515G>A	p.Val839Ile (p.V839I)	NM_022166.4 M	SNV	B	2 +	2
1403914	XYLT1	c.2557G>C	p.Glu853Gln (p.E853Q)	NM_022166.4 M	SNV	VUS	1 +	2
127235	XYLT1	c.1792C>T	p.Arg598Cys (p.R598C)	NM_022166.4 M	SNV	P	2 +	2

379 Results, 20 per Page

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