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Gene: TBCE & Disease: HRDS, 263 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5290	TBCE	c.155_166del	p.Ser52_Gly55del	NM_003193.5 M	Del	P	2 +	7
	TBCE	c.155_166del	p.Ser52_Gly55del	NM_001079515.3	Del	P	2 +	7
	TBCE	c.155_166del	p.Ser52_Gly55del	NM_001287801.2	Del	P	2 +	7
	TBCE	c.-210-12876_-210-12865del	--	NM_001287802.2	Del	P	2 +	7
631595	TBCE	c.100+1G>A	--	NM_003193.5 M	SNV	P	3 +	6
	TBCE	c.100+1G>A	--	NM_001079515.3	SNV	P	3 +	6
	TBCE	c.100+1G>A	--	NM_001287801.2	SNV	P	3 +	6
	TBCE	c.-211+1G>A	--	NM_001287802.2	SNV	P	3 +	6
225483	TBCE	c.143_144del	p.Lys48fs (p.K48fs)	NM_003193.5 M	Del	P	2 +	4
	TBCE	c.143_144del	p.Lys48fs (p.K48fs)	NM_001079515.3	Del	P	2 +	4
	TBCE	c.143_144del	p.Lys48fs (p.K48fs)	NM_001287801.2	Del	P	2 +	4
	TBCE	c.-210-12888_-210-12887del	--	NM_001287802.2	Del	P	2 +	4
5291	TBCE	c.66_67del	p.Val23fs (p.V23fs)	NM_003193.5 M	Del	P	1 +	3
	TBCE	c.66_67del	p.Val23fs (p.V23fs)	NM_001079515.3	Del	P	1 +	3
	TBCE	c.66_67del	p.Val23fs (p.V23fs)	NM_001287801.2	Del	P	1 +	3
	TBCE	c.-245_-244del	--	NM_001287802.2	Del	P	1 +	3
1449541	TBCE	c.898+6T>C	--	NM_003193.5 M	SNV	VUS	3 +	2
	TBCE	c.898+6T>C	--	NM_001079515.3	SNV	VUS	3 +	2
	TBCE	c.1051+6T>C	--	NM_001287801.2	SNV	VUS	3 +	2
	TBCE	c.559+6T>C	--	NM_001287802.2	SNV	VUS	3 +	2

263 Results, 20 per Page

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