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Gene: TTC19 & Disease: MC3DN2, 178 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
749241	TTC19	c.898A>C	p.Ile300Leu (p.I300L)	NM_017775.4 M	SNV	LB	1 +	2
891678	TTC19	c.304C>G	p.Arg102Gly (p.R102G)	NM_017775.4 M	SNV	VUS	1 +	2
321941	TTC19	c.146C>T	p.Pro49Leu (p.P49L)	NM_017775.4 M	SNV	LB	1 +	2
321944	TTC19	c.364G>A	p.Ala122Thr (p.A122T)	NM_017775.4 M	SNV	VUS	1 +	2
321949	TTC19	c.994+3A>T	--	NM_017775.4 M	SNV	VUS	1 +	2
31073	TTC19	c.656T>G	p.Leu219Ter (p.L219X)	NM_017775.4 M	SNV	P	1 +	2
2054602	TTC19	c.906G>A	p.Met302Ile (p.M302I)	NM_017775.4 M	SNV	LB	1 +	2
749241	TTC19	c.577A>C	p.Ile193Leu (p.I193L)	NM_001271420.2	SNV	LB	1 +	2
891678	TTC19	c.-155C>G	--	NM_001271420.2	SNV	VUS	1 +	2
321941	TTC19	c.-313C>T	--	NM_001271420.2	SNV	LB	1 +	2
321944	TTC19	c.43G>A	p.Ala15Thr (p.A15T)	NM_001271420.2	SNV	VUS	1 +	2
321949	TTC19	c.673+3A>T	--	NM_001271420.2	SNV	VUS	1 +	2
31073	TTC19	c.335T>G	p.Leu112Ter (p.L112X)	NM_001271420.2	SNV	P	1 +	2
2054602	TTC19	c.585G>A	p.Met195Ile (p.M195I)	NM_001271420.2	SNV	LB	1 +	2
488973	TTC19	c.1A>G	p.Met1Val (p.M1V)	NM_017775.4 M	SNV	P	1 +	1
102437	TTC19	c.601_604del	p.Gly201fs (p.G201fs)	NM_017775.4 M	Del	P	1 +	1
137766	TTC19	c.1041A>G	p.Gln347= (p.Q347=)	NM_017775.4 M	SNV	LB	1 +	1
102440	TTC19	c.829C>T	p.Gln277Ter (p.Q277X)	NM_017775.4 M	SNV	P	1 +	1
137767	TTC19	c.573G>A	p.Ala191= (p.A191=)	NM_017775.4 M	SNV	B	1 +	1
889941	TTC19	c.998G>A	p.Arg333Gln (p.R333Q)	NM_017775.4 M	SNV	VUS	1 +	1

178 Results, 20 per Page

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