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Gene: GPD1L & Disease: BRGDA1, 198 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
786	GPD1L	c.839C>T	p.Ala280Val (p.A280V)	NM_015141.4 M	SNV	P	4 +	14
788	GPD1L	c.370A>G	p.Ile124Val (p.I124V)	NM_015141.4 M	SNV	P	7 +	10
787	GPD1L	c.247G>A	p.Glu83Lys (p.E83K)	NM_015141.4 M	SNV	P	3 +	8
789	GPD1L	c.817C>T	p.Arg273Cys (p.R273C)	NM_015141.4 M	SNV	P	3 +	3
180369	GPD1L	c.520G>A	p.Glu174Lys (p.E174K)	NM_015141.4 M	SNV	LB	4 +	2
1393206	GPD1L	c.376G>A	p.Glu126Lys (p.E126K)	NM_015141.4 M	SNV	VUS	2 +	1
578277	GPD1L	c.40G>A	p.Gly14Arg (p.G14R)	NM_015141.4 M	SNV	VUS	2 +	1
632847	GPD1L	c.215C>T	p.Pro72Leu (p.P72L)	NM_015141.4 M	SNV	VUS	2 +	1
1719868	GPD1L	c.359T>A	p.Leu120His (p.L120H)	NM_015141.4 M	SNV	VUS	2 +	1
666385	GPD1L	c.11C>T	p.Ala4Val (p.A4V)	NM_015141.4 M	SNV	VUS	2 +	1
1355478	GPD1L	c.959A>G	p.Lys320Arg (p.K320R)	NM_015141.4 M	SNV	VUS	2 +	1
218714	GPD1L	c.977C>A	p.Ala326Glu (p.A326E)	NM_015141.4 M	SNV	VUS	3 +	1
1023066	GPD1L	c.917_918delinsGG	p.Ala306Gly (p.A306G)	NM_015141.4 M	Indel	VUS	2 +	1
1515725	GPD1L	c.853-2A>G	--	NM_015141.4 M	SNV	VUS	3 +	1
644362	GPD1L	c.838G>A	p.Ala280Thr (p.A280T)	NM_015141.4 M	SNV	VUS	3 +	1
402907	GPD1L	c.745G>A	p.Val249Met (p.V249M)	NM_015141.4 M	SNV	VUS	2 +	1
656217	GPD1L	c.658C>T	p.Arg220Cys (p.R220C)	NM_015141.4 M	SNV	VUS	3 +	1
809441	GPD1L	c.505+2T>G	--	NM_015141.4 M	SNV	VUS	3 +	1
344725	GPD1L	c.372A>G	p.Ile124Met (p.I124M)	NM_015141.4 M	SNV	VUS	2 +	1
1052184	GPD1L	c.391C>A	p.Leu131Met (p.L131M)	NM_015141.4 M	SNV	VUS	2 +	1

198 Results, 20 per Page

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