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Gene: LIPE & Disease: FPLD6, 17 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
155901	LIPE	c.3203_3221del	p.Val1068fs (p.V1068fs)	NM_005357.4 M	Del	P	1 +	3
781488	LIPE	c.551C>A	p.Ser184Ter (p.S184X)	NM_005357.4 M	SNV	LB	1 +	2
180647	LIPE	c.1519_1520dup	p.Ser508fs (p.S508fs)	NM_005357.4 M	Dup	P	1 +	2
393280	LIPE	c.3040G>A	p.Val1014Met (p.V1014M)	NM_005357.4 M	SNV	VUS	1 +	1
1028370	LIPE	c.2152C>T	p.Arg718Ter (p.R718X)	NM_005357.4 M	SNV	LP	1 +	1
522594	LIPE	c.3103G>T	p.Glu1035Ter (p.E1035X)	NM_005357.4 M	SNV	P	1 +	1
2433462	LIPE	c.2461C>T	p.Arg821Cys (p.R821C)	NM_005357.4 M	SNV	VUS	1 +	1
998371	LIPE	c.913C>T	p.Arg305Cys (p.R305C)	NM_005357.4 M	SNV	VUS	1 +	1
2433462	LIPE	c.1711C>T	p.Arg571Cys (p.R571C)	NM_001416100.1	SNV	VUS	1 +	1
	LIPE	c.1696C>T	p.Arg566Cys (p.R566C)	NM_001416101.1	SNV	VUS	1 +	1
	LIPE	c.1591C>T	p.Arg531Cys (p.R531C)	NM_001416102.1	SNV	VUS	1 +	1
	LIPE	c.1558C>T	p.Arg520Cys (p.R520C)	NM_001416103.1	SNV	VUS	1 +	1
	LIPE	c.1558C>T	p.Arg520Cys (p.R520C)	NM_001416104.1	SNV	VUS	1 +	1
	LIPE	c.1468C>T	p.Arg490Cys (p.R490C)	NM_001416105.1	SNV	VUS	1 +	1
	LIPE	c.1363C>T	p.Arg455Cys (p.R455C)	NM_001416106.1	SNV	VUS	1 +	1
	LIPE	c.874C>T	p.Arg292Cys (p.R292C)	NM_001416107.1	SNV	VUS	1 +	1
	LIPE	c.820C>T	p.Arg274Cys (p.R274C)	NM_001416108.1	SNV	VUS	1 +	1

17 Results, 20 per Page

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