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Gene: SLC35A1 & Disease: CDG2F, 90 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
488412	SLC35A1	c.303G>C	p.Gln101His (p.Q101H)	NM_006416.5 M	SNV	P	1 +	2
488412	SLC35A1	c.303G>C	p.Gln101His (p.Q101H)	NM_001168398.2	SNV	P	1 +	2
1703752	SLC35A1	c.439T>C	p.Ser147Pro (p.S147P)	NM_006416.5 M	SNV	P	1 +	1
488413	SLC35A1	c.467C>G	p.Thr156Arg (p.T156R)	NM_006416.5 M	SNV	P	1 +	1
488414	SLC35A1	c.586G>A	p.Glu196Lys (p.E196K)	NM_006416.5 M	SNV	P	1 +	1
1703752	SLC35A1	c.439T>C	p.Ser147Pro (p.S147P)	NM_001168398.2	SNV	P	1 +	1
488413	SLC35A1	c.467C>G	p.Thr156Arg (p.T156R)	NM_001168398.2	SNV	P	1 +	1
488414	SLC35A1	c.575-610G>A	--	NM_001168398.2	SNV	P	1 +	1
1508884	SLC35A1	c.763G>C	p.Val255Leu (p.V255L)	NM_006416.5 M	SNV	VUS	1 +	0
1938456	SLC35A1	c.475C>T	p.Gln159Ter (p.Q159X)	NM_006416.5 M	SNV	VUS	1 +	0
1401885	SLC35A1	c.1007G>A	p.Gly336Asp (p.G336D)	NM_006416.5 M	SNV	VUS	1 +	0
1106981	SLC35A1	c.378G>A	p.Pro126= (p.P126=)	NM_006416.5 M	SNV	LB	1 +	0
2054723	SLC35A1	c.508-10A>G	--	NM_006416.5 M	SNV	LB	1 +	0
703586	SLC35A1	c.355-7T>C	--	NM_006416.5 M	SNV	LB	1 +	0
566896	SLC35A1	c.569T>C	p.Phe190Ser (p.F190S)	NM_006416.5 M	SNV	VUS	1 +	0
2037368	SLC35A1	c.855T>G	p.Ile285Met (p.I285M)	NM_006416.5 M	SNV	VUS	1 +	0
976512	SLC35A1	c.512A>G	p.Glu171Gly (p.E171G)	NM_006416.5 M	SNV	LB	1 +	0
2064523	SLC35A1	c.7G>A	p.Ala3Thr (p.A3T)	NM_006416.5 M	SNV	VUS	1 +	0
1115293	SLC35A1	c.752-9G>T	--	NM_006416.5 M	SNV	LB	1 +	0
95391	SLC35A1	c.-18G>C	--	NM_006416.5 M	SNV	B	1 +	0

90 Results, 20 per Page

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