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Gene: CDH2 & Disease: ARVD14, 17 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
789103	CDH2	c.885C>T	p.Asp295= (p.D295=)	NM_001792.5 M	SNV	LB	2 +	2
789104	CDH2	c.702+6A>T	--	NM_001792.5 M	SNV	LB	2 +	2
929498	CDH2	c.1219G>A	p.Asp407Asn (p.D407N)	NM_001792.5 M	SNV	P	1 +	2
789103	CDH2	c.792C>T	p.Asp264= (p.D264=)	NM_001308176.2	SNV	LB	2 +	2
789104	CDH2	c.609+6A>T	--	NM_001308176.2	SNV	LB	2 +	2
929498	CDH2	c.1126G>A	p.Asp376Asn (p.D376N)	NM_001308176.2	SNV	P	1 +	2
1415384	CDH2	c.1306G>A	p.Asp436Asn (p.D436N)	NM_001792.5 M	SNV	VUS	1 +	1
1776237	CDH2	c.1604C>G	p.Thr535Ser (p.T535S)	NM_001792.5 M	SNV	VUS	1 +	1
929497	CDH2	c.686A>C	p.Gln229Pro (p.Q229P)	NM_001792.5 M	SNV	P	1 +	1
1685257	CDH2	c.1344+1G>A	--	NM_001792.5 M	SNV	P	2 +	1
1415384	CDH2	c.1213G>A	p.Asp405Asn (p.D405N)	NM_001308176.2	SNV	VUS	1 +	1
1776237	CDH2	c.1511C>G	p.Thr504Ser (p.T504S)	NM_001308176.2	SNV	VUS	1 +	1
929497	CDH2	c.593A>C	p.Gln198Pro (p.Q198P)	NM_001308176.2	SNV	P	1 +	1
1685257	CDH2	c.1251+1G>A	--	NM_001308176.2	SNV	P	2 +	1
1679772	CDH2	c.14C>T	p.Ala5Val (p.A5V)	NM_001792.5 M	SNV	LB	1 +	0
1514978	CDH2	c.1100C>T	p.Thr367Met (p.T367M)	NM_001792.5 M	SNV	VUS	1 +	0
1514978	CDH2	c.1007C>T	p.Thr336Met (p.T336M)	NM_001308176.2	SNV	VUS	1 +	0

17 Results, 20 per Page

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