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Gene: ATP13A3 & Disease: PPH5, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1195991	ATP13A3	c.2227C>T	p.Arg743Cys (p.R743C)	NM_001367549.1 M	SNV	P	2 +	3
	ATP13A3	c.2227C>T	p.Arg743Cys (p.R743C)	NM_024524.4	SNV	P	2 +	3
	ATP13A3	c.2146C>T	p.Arg716Cys (p.R716C)	NM_001374836.1	SNV	P	2 +	3
1195990	ATP13A3	c.2549dup	p.Met850fs (p.M850fs)	NM_001367549.1 M	Dup	P	2 +	2
1195990	ATP13A3	c.2549dupT	--	NM_001367549.1 M	Dup	P	2 +	2
1195989	ATP13A3	c.2563G>A	p.Val855Met (p.V855M)	NM_001367549.1 M	SNV	P	2 +	2
1195990	ATP13A3	c.2468dup	p.Met823fs (p.M823fs)	NM_001374836.1	Dup	P	2 +	2
1195990	ATP13A3	c.2549dup	p.Met850fs (p.M850fs)	NM_024524.4	Dup	P	2 +	2
1195989	ATP13A3	c.2482G>A	p.Val828Met (p.V828M)	NM_001374836.1	SNV	P	2 +	2
1195989	ATP13A3	c.2563G>A	p.Val855Met (p.V855M)	NM_024524.4	SNV	P	2 +	2
1195992	ATP13A3	c.3079dup	p.Trp1027fs (p.W1027fs)	NM_001367549.1 M	Dup	P	2 +	1
1195992	ATP13A3	c.3079dupT	--	NM_001367549.1 M	Dup	P	2 +	1
1195993	ATP13A3	c.3685G>T	p.Glu1229Ter (p.E1229X)	NM_001367549.1 M	SNV	P	2 +	1
1195992	ATP13A3	c.2998dup	p.Trp1000fs (p.W1000fs)	NM_001374836.1	Dup	P	2 +	1
1195992	ATP13A3	c.3079dup	p.Trp1027fs (p.W1027fs)	NM_024524.4	Dup	P	2 +	1
1195993	ATP13A3	c.3604G>T	p.Glu1202Ter (p.E1202X)	NM_001374836.1	SNV	P	2 +	1
1195993	ATP13A3	c.3595G>T	p.Glu1199Ter (p.E1199X)	NM_024524.4	SNV	P	2 +	1
2431704	ATP13A3	c.2009A>G	p.Asp670Gly (p.D670G)	NM_001367549.1 M	SNV	VUS	1 +	0
	ATP13A3	c.1928A>G	p.Asp643Gly (p.D643G)	NM_001374836.1	SNV	VUS	1 +	0
	ATP13A3	c.2009A>G	p.Asp670Gly (p.D670G)	NM_024524.4	SNV	VUS	1 +	0

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