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Gene: GALNT2 & Disease: CDG2T, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
873545	GALNT2	c.865C>T	p.Gln289Ter (p.Q289X)	NM_004481.5 M	SNV	P	1 +	3
873545	GALNT2	c.751C>T	p.Gln251Ter (p.Q251X)	NM_001291866.2	SNV	P	1 +	3
873546	GALNT2	c.598C>T	p.Arg200Ter (p.R200X)	NM_004481.5 M	SNV	P	1 +	1
873547	GALNT2	c.296dup	p.Tyr99Ter (p.Y99X)	NM_004481.5 M	Dup	P	1 +	1
873548	GALNT2	c.629G>C	p.Arg210Pro (p.R210P)	NM_004481.5 M	SNV	P	1 +	1
873544	GALNT2	c.311T>C	p.Phe104Ser (p.F104S)	NM_004481.5 M	SNV	P	1 +	1
873546	GALNT2	c.484C>T	p.Arg162Ter (p.R162X)	NM_001291866.2	SNV	P	1 +	1
873547	GALNT2	c.182dup	p.Tyr61Ter (p.Y61X)	NM_001291866.2	Dup	P	1 +	1
873548	GALNT2	c.515G>C	p.Arg172Pro (p.R172P)	NM_001291866.2	SNV	P	1 +	1
873544	GALNT2	c.197T>C	p.Phe66Ser (p.F66S)	NM_001291866.2	SNV	P	1 +	1
1101345	GALNT2	c.648A>T	p.Gln216His (p.Q216H)	NM_004481.5 M	SNV	LB	1 +	0
1065626	GALNT2	c.623G>A	p.Arg208Gln (p.R208Q)	NM_004481.5 M	SNV	LP	1 +	0
2442077	GALNT2	c.1372G>A	p.Asp458Asn (p.D458N)	NM_004481.5 M	SNV	VUS	1 +	0
1709527	GALNT2	c.449C>T	p.Ser150Leu (p.S150L)	NM_004481.5 M	SNV	VUS	1 +	0
1709528	GALNT2	c.460A>T	p.Arg154Trp (p.R154W)	NM_004481.5 M	SNV	VUS	1 +	0
1339903	GALNT2	c.526G>C	p.Asp176His (p.D176H)	NM_004481.5 M	SNV	VUS	1 +	0
785954	GALNT2	c.1077C>T	p.His359= (p.H359=)	NM_004481.5 M	SNV	LB	1 +	0
1101345	GALNT2	c.534A>T	p.Gln178His (p.Q178H)	NM_001291866.2	SNV	LB	1 +	0
1065626	GALNT2	c.509G>A	p.Arg170Gln (p.R170Q)	NM_001291866.2	SNV	LP	1 +	0
2442077	GALNT2	c.1258G>A	p.Asp420Asn (p.D420N)	NM_001291866.2	SNV	VUS	1 +	0

24 Results, 20 per Page

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