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Gene: TBX1 & Disease: VCFS, 2063 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
518715	TBX1	c.1076G>A	p.Gly359Asp (p.G359D)	NM_001379200.1 M	SNV	LB	6 +	6
	TBX1	c.1049G>A	p.Gly350Asp (p.G350D)	NM_080647.1	SNV	LB	6 +	6
	TBX1	c.1009+426G>A	--	NM_005992.1	SNV	LB	6 +	6
	TBX1	c.1009+426G>A	--	NM_080646.2	SNV	LB	6 +	6
1699057	TBX1	c.962T>C	p.Leu321Pro (p.L321P)	NM_001379200.1 M	SNV	VUS	3 +	4
	TBX1	c.935T>C	p.Leu312Pro (p.L312P)	NM_005992.1	SNV	VUS	3 +	4
	TBX1	c.935T>C	p.Leu312Pro (p.L312P)	NM_080646.2	SNV	VUS	3 +	4
	TBX1	c.935T>C	p.Leu312Pro (p.L312P)	NM_080647.1	SNV	VUS	3 +	4
1481145	TBX1	c.711+1G>A	--	NM_001379200.1 M	SNV	P	3 +	3
263383	TBX1	c.691C>T	p.Leu231= (p.L231=)	NM_001379200.1 M	SNV	B	3 +	3
526036	TBX1	c.319A>T	p.Lys107Ter (p.K107X)	NM_001379200.1 M	SNV	P	3 +	3
1481145	TBX1	c.684+1G>A	--	NM_005992.1	SNV	P	3 +	3
	TBX1	c.684+1G>A	--	NM_080646.2	SNV	P	3 +	3
	TBX1	c.684+1G>A	--	NM_080647.1	SNV	P	3 +	3
263383	TBX1	c.664C>T	p.Leu222= (p.L222=)	NM_080646.2	SNV	B	3 +	3
	TBX1	c.664C>T	p.Leu222= (p.L222=)	NM_080647.1	SNV	B	3 +	3
	TBX1	c.664C>T	p.Leu222= (p.L222=)	NM_005992.1	SNV	B	3 +	3
526036	TBX1	c.292A>T	p.Lys98Ter (p.K98X)	NM_005992.1	SNV	P	3 +	3
	TBX1	c.292A>T	p.Lys98Ter (p.K98X)	NM_080646.2	SNV	P	3 +	3
	TBX1	c.292A>T	p.Lys98Ter (p.K98X)	NM_080647.1	SNV	P	3 +	3

2063 Results, 20 per Page

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