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Gene: ALG6 & Disease: CDG1C, 564 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5497	ALG6	c.998C>T	p.Ala333Val (p.A333V)	NM_013339.4 M	SNV	P	1 +	11
95529	ALG6	c.257+5G>A	--	NM_013339.4 M	SNV	P	1 +	9
381535	ALG6	c.680G>A	p.Gly227Glu (p.G227E)	NM_013339.4 M	SNV	P	1 +	6
1430571	ALG6	c.997G>C	p.Ala333Pro (p.A333P)	NM_013339.4 M	SNV	VUS	1 +	6
1370628	ALG6	c.1326+1G>T	--	NM_013339.4 M	SNV	P	1 +	4
30421	ALG6	c.680+2T>G	--	NM_013339.4 M	SNV	P	1 +	4
551854	ALG6	c.338G>A	p.Arg113His (p.R113H)	NM_013339.4 M	SNV	P	1 +	3
1522702	ALG6	c.680+1G>A	--	NM_013339.4 M	SNV	P	1 +	3
1066153	ALG6	c.337C>T	p.Arg113Cys (p.R113C)	NM_013339.4 M	SNV	LP	1 +	3
30422	ALG6	c.391T>C	p.Tyr131His (p.Y131H)	NM_013339.4 M	SNV	LB	1 +	3
552732	ALG6	c.53G>A	p.Arg18Gln (p.R18Q)	NM_013339.4 M	SNV	LP	1 +	3
550168	ALG6	c.257+2dup	--	NM_013339.4 M	Dup	P	1 +	3
2148381	ALG6	c.346+5A>G	--	NM_013339.4 M	SNV	VUS	1 +	2
1423464	ALG6	c.1249del	p.Gln417fs (p.Q417fs)	NM_013339.4 M	Del	P	1 +	2
1419510	ALG6	c.1326+6T>A	--	NM_013339.4 M	SNV	VUS	1 +	2
1415420	ALG6	c.816+4T>C	--	NM_013339.4 M	SNV	VUS	1 +	2
1378615	ALG6	c.1058+6T>C	--	NM_013339.4 M	SNV	VUS	1 +	2
2081106	ALG6	c.82+1G>A	--	NM_013339.4 M	SNV	LP	1 +	2
1419636	ALG6	c.430-3C>T	--	NM_013339.4 M	SNV	VUS	1 +	2
1507861	ALG6	c.429+2T>G	--	NM_013339.4 M	SNV	LP	1 +	2

564 Results, 20 per Page

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