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Gene: PLD1 & Disease: CVDP1, 46 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1033939	PLD1	c.2543+1G>T	--	NM_002662.5 M	SNV	LP	1 +	3
1033939	PLD1	c.2429+1G>T	--	NM_001130081.3	SNV	LP	1 +	3
1704369	PLD1	c.2500G>A	p.Gly834Ser (p.G834S)	NM_002662.5 M	SNV	VUS	1 +	2
1704369	PLD1	c.2386G>A	p.Gly796Ser (p.G796S)	NM_001130081.3	SNV	VUS	1 +	2
426089	PLD1	c.1325A>C	p.His442Pro (p.H442P)	NM_002662.5 M	SNV	P	1 +	1
426090	PLD1	c.1484_1485del	p.Thr495fs (p.T495fs)	NM_002662.5 M	MS	P	1 +	1
426091	PLD1	c.2882+2T>C	--	NM_002662.5 M	SNV	P	1 +	1
426089	PLD1	c.1325A>C	p.His442Pro (p.H442P)	NM_001130081.3	SNV	P	1 +	1
426090	PLD1	c.1484_1485del	p.Thr495fs (p.T495fs)	NM_001130081.3	MS	P	1 +	1
426091	PLD1	c.2768+2T>C	--	NM_001130081.3	SNV	P	1 +	1
1030180	PLD1	c.1319G>A	p.Arg440His (p.R440H)	NM_002662.5 M	SNV	VUS	1 +	0
1696830	PLD1	c.2023C>T	p.Arg675Trp (p.R675W)	NM_002662.5 M	SNV	LP	1 +	0
2445423	PLD1	c.1062-2A>T	--	NM_002662.5 M	SNV	LP	1 +	0
2441876	PLD1	c.2602C>T	p.Gln868Ter (p.Q868X)	NM_002662.5 M	SNV	LP	1 +	0
992976	PLD1	c.498del	p.Ser167fs (p.S167fs)	NM_002662.5 M	Del	LP	1 +	0
1033938	PLD1	c.1543G>A	p.Ala515Thr (p.A515T)	NM_002662.5 M	SNV	VUS	1 +	0
1033941	PLD1	c.893G>A	p.Arg298Gln (p.R298Q)	NM_002662.5 M	SNV	VUS	1 +	0
1033940	PLD1	c.2569A>G	p.Ile857Val (p.I857V)	NM_002662.5 M	SNV	LB	1 +	0
2434924	PLD1	c.2284A>G	p.Ile762Val (p.I762V)	NM_002662.5 M	SNV	VUS	1 +	0
2434925	PLD1	c.2134C>T	p.Arg712Trp (p.R712W)	NM_002662.5 M	SNV	VUS	1 +	0

46 Results, 20 per Page

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