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Gene: SCP2 & Disease: LKDMN, 54 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
488590	SCP2	c.825+1G>T	--	NM_002979.5 M	SNV	P	1 +	5
	SCP2	c.693+1G>T	--	NM_001193600.2	SNV	P	1 +	5
	SCP2	c.753+1G>T	--	NM_001193599.2	SNV	P	1 +	5
	SCP2	c.582+1G>T	--	NM_001193617.2	SNV	P	1 +	5
	SCP2	c.825+1G>T	--	NM_001330587.2	SNV	P	1 +	5
	SCP2	c.693+1G>T	--	NM_001007098.3	SNV	P	1 +	5
12810	SCP2	c.550dup	p.Ile184fs (p.I184fs)	NM_002979.5 M	Dup	P	1 +	2
1911686	SCP2	c.588dup	--	NM_002979.5 M	Dup	P	1 +	2
1033966	SCP2	c.1111C>T	p.Gln371Ter (p.Q371X)	NM_002979.5 M	SNV	P	1 +	2
12810	SCP2	c.418dup	p.Ile140fs (p.I140fs)	NM_001007098.3	Dup	P	1 +	2
	SCP2	c.478dup	p.Ile160fs (p.I160fs)	NM_001193599.2	Dup	P	1 +	2
	SCP2	c.418dup	p.Ile140fs (p.I140fs)	NM_001193600.2	Dup	P	1 +	2
	SCP2	c.307dup	p.Ile103fs (p.I103fs)	NM_001193617.2	Dup	P	1 +	2
	SCP2	c.550dup	p.Ile184fs (p.I184fs)	NM_001330587.2	Dup	P	1 +	2
1033966	SCP2	c.1039C>T	p.Gln347Ter (p.Q347X)	NM_001193599.2	SNV	P	1 +	2
	SCP2	c.979C>T	p.Gln327Ter (p.Q327X)	NM_001193600.2	SNV	P	1 +	2
	SCP2	c.868C>T	p.Gln290Ter (p.Q290X)	NM_001193617.2	SNV	P	1 +	2
977231	SCP2	c.886C>T	p.Pro296Ser (p.P296S)	NM_002979.5 M	SNV	VUS	1 +	0
1610163	SCP2	c.973+15T>G	--	NM_002979.5 M	SNV	LB	1 +	0
594561	SCP2	c.1234A>G	p.Ser412Gly (p.S412G)	NM_002979.5 M	SNV	VUS	1 +	0

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