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Gene: VPS13D & Disease: SCAR4, 114 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
561198	VPS13D	c.3569G>A	p.Gly1190Asp (p.G1190D)	NM_015378.4 M	SNV	P	1 +	2
561198	VPS13D	c.3569G>A	p.Gly1190Asp (p.G1190D)	NM_018156.4	SNV	P	1 +	2
561199	VPS13D	c.3316C>T	p.Gln1106Ter (p.Q1106X)	NM_015378.4 M	SNV	P	1 +	1
561200	VPS13D	c.12629C>T	p.Ala4210Val (p.A4210V)	NM_015378.4 M	SNV	P	1 +	1
561202	VPS13D	c.7334_7335del	p.Val2445fs (p.V2445fs)	NM_015378.4 M	MS	P	1 +	1
561203	VPS13D	c.10562A>G	p.Asn3521Ser (p.N3521S)	NM_015378.4 M	SNV	P	1 +	1
561204	VPS13D	c.12683G>A	p.Arg4228Gln (p.R4228Q)	NM_015378.4 M	SNV	P	1 +	1
561201	VPS13D	c.5409C>A	p.Tyr1803Ter (p.Y1803X)	NM_015378.4 M	SNV	P	1 +	1
932894	VPS13D	c.12416C>T	p.Ala4139Val (p.A4139V)	NM_015378.4 M	SNV	LP	1 +	1
933227	VPS13D	c.946C>T	p.Arg316Ter (p.R316X)	NM_015378.4 M	SNV	P	1 +	1
1064611	VPS13D	c.941+3A>G	--	NM_015378.4 M	SNV	LP	1 +	1
1064612	VPS13D	c.10270C>T	p.Gln3424Ter (p.Q3424X)	NM_015378.4 M	SNV	LP	1 +	1
561199	VPS13D	c.3316C>T	p.Gln1106Ter (p.Q1106X)	NM_018156.4	SNV	P	1 +	1
561200	VPS13D	c.12554C>T	p.Ala4185Val (p.A4185V)	NM_018156.4	SNV	P	1 +	1
561202	VPS13D	c.7334_7335del	p.Val2445fs (p.V2445fs)	NM_018156.4	MS	P	1 +	1
561203	VPS13D	c.10487A>G	p.Asn3496Ser (p.N3496S)	NM_018156.4	SNV	P	1 +	1
561204	VPS13D	c.12608G>A	p.Arg4203Gln (p.R4203Q)	NM_018156.4	SNV	P	1 +	1
561201	VPS13D	c.5409C>A	p.Tyr1803Ter (p.Y1803X)	NM_018156.4	SNV	P	1 +	1
932894	VPS13D	c.12341C>T	p.Ala4114Val (p.A4114V)	NM_018156.4	SNV	LP	1 +	1
933227	VPS13D	c.946C>T	p.Arg316Ter (p.R316X)	NM_018156.4	SNV	P	1 +	1

114 Results, 20 per Page

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