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Gene: TBX4 & Disease: ICPPS, 200 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1327321	TBX4	c.1021+1G>A	--	NM_001321120.2 M	SNV	P	2 +	6
812880	TBX4	c.1115dup	p.Pro373fs (p.P373fs)	NM_001321120.2 M	Dup	P	4 +	6
1327321	TBX4	c.1021+1G>A	--	NM_018488.3	SNV	P	2 +	6
812880	TBX4	c.1112dup	p.Pro372fs (p.P372fs)	NM_018488.3	Dup	P	4 +	6
812880	TBX4	c.1106dup	--	NM_018488.3	Dup	P	4 +	6
261033	TBX4	c.1449C>T	p.Val483= (p.V483=)	NM_001321120.2 M	SNV	B	1 +	3
261034	TBX4	c.402-8G>A	--	NM_001321120.2 M	SNV	B	2 +	3
261033	TBX4	c.1446C>T	p.Val482= (p.V482=)	NM_018488.3	SNV	B	1 +	3
261034	TBX4	c.402-8G>A	--	NM_018488.3	SNV	B	2 +	3
2503113	TBX4	c.1021G>A	p.Ala341Thr (p.A341T)	NM_001321120.2 M	SNV	VUS	1 +	2
1341445	TBX4	c.748C>T	p.Arg250Trp (p.R250W)	NM_001321120.2 M	SNV	P	1 +	2
324249	TBX4	c.276T>G	p.Ala92= (p.A92=)	NM_001321120.2 M	SNV	B	1 +	2
7856	TBX4	c.184C>T	p.Gln62Ter (p.Q62X)	NM_001321120.2 M	SNV	P	1 +	2
7855	TBX4	c.743G>T	p.Gly248Val (p.G248V)	NM_001321120.2 M	SNV	P	1 +	2
548695	TBX4	c.538_547del	p.Pro180fs (p.P180fs)	NM_001321120.2 M	Del	LP	2 +	2
261035	TBX4	c.941C>T	p.Ala314Val (p.A314V)	NM_001321120.2 M	SNV	B	1 +	2
800704	TBX4	c.1057C>T	p.Arg353Ter (p.R353X)	NM_001321120.2 M	SNV	P	2 +	2
1341420	TBX4	c.1167dup	p.Arg390fs (p.R390fs)	NM_001321120.2 M	Dup	P	1 +	2
1341438	TBX4	c.316G>A	p.Gly106Ser (p.G106S)	NM_001321120.2 M	SNV	LP	2 +	2
2503113	TBX4	c.1021G>A	p.Asp341Asn (p.D341N)	NM_018488.3	SNV	VUS	1 +	2

200 Results, 20 per Page

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