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Gene: PLOD2 & Disease: BRKS2, 173 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
981530	PLOD2	c.778-6T>G	--	NM_182943.3 M	SNV	VUS	1 +	5
981531	PLOD2	c.2270A>T	p.Asp757Val (p.D757V)	NM_182943.3 M	SNV	VUS	1 +	5
981530	PLOD2	c.778-6T>G	--	NM_000935.3	SNV	VUS	1 +	5
981531	PLOD2	c.2207A>T	p.Asp736Val (p.D736V)	NM_000935.3	SNV	VUS	1 +	5
41424	PLOD2	c.1559dup	p.Val523fs (p.V523fs)	NM_182943.3 M	Dup	P	1 +	4
374012	PLOD2	c.2038C>T	p.Arg680Ter (p.R680X)	NM_182943.3 M	SNV	P	5 +	4
41424	PLOD2	c.1501-971dup	--	NM_000935.3	Dup	P	1 +	4
374012	PLOD2	c.1975C>T	p.Arg659Ter (p.R659X)	NM_000935.3	SNV	P	5 +	4
807467	PLOD2	c.1280A>G	p.Asn427Ser (p.N427S)	NM_182943.3 M	SNV	LP	1 +	3
1324939	PLOD2	c.1483C>T	p.Arg495Ter (p.R495X)	NM_182943.3 M	SNV	P	1 +	3
632404	PLOD2	c.1417C>T	p.Arg473Ter (p.R473X)	NM_182943.3 M	SNV	P	1 +	3
807467	PLOD2	c.1280A>G	p.Asn427Ser (p.N427S)	NM_000935.3	SNV	LP	1 +	3
1324939	PLOD2	c.1483C>T	p.Arg495Ter (p.R495X)	NM_000935.3	SNV	P	1 +	3
632404	PLOD2	c.1417C>T	p.Arg473Ter (p.R473X)	NM_000935.3	SNV	P	1 +	3
7643	PLOD2	c.1856G>A	p.Arg619His (p.R619H)	NM_182943.3 M	SNV	P	1 +	2
7643	PLOD2	c.1793G>A	p.Arg598His (p.R598H)	NM_000935.3	SNV	P	1 +	2
902770	PLOD2	c.335A>G	p.Glu112Gly (p.E112G)	NM_182943.3 M	SNV	VUS	1 +	1
2581069	PLOD2	c.1872T>G	p.Tyr624Ter (p.Y624X)	NM_182943.3 M	SNV	LP	1 +	1
343651	PLOD2	c.382A>G	p.Lys128Glu (p.K128E)	NM_182943.3 M	SNV	VUS	2 +	1
493376	PLOD2	c.587C>T	p.Thr196Ile (p.T196I)	NM_182943.3 M	SNV	LB	2 +	1

173 Results, 20 per Page

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