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Gene: ATP6AP2 & Disease: MRXSH, 118 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
136465	ATP6AP2	c.38-5T>C	--	NM_005765.3 M	SNV	LB	4 +	3
10801	ATP6AP2	c.321C>T	p.Asp107= (p.D107=)	NM_005765.3 M	SNV	P	2 +	2
1513046	ATP6AP2	c.275G>A	p.Ser92Asn (p.S92N)	NM_005765.3 M	SNV	VUS	2 +	2
1424480	ATP6AP2	c.589-3A>G	--	NM_005765.3 M	SNV	VUS	2 +	2
204912	ATP6AP2	c.490G>A	p.Val164Ile (p.V164I)	NM_005765.3 M	SNV	LB	4 +	2
204915	ATP6AP2	c.217C>T	p.Arg73Trp (p.R73W)	NM_005765.3 M	SNV	LB	2 +	2
533691	ATP6AP2	c.858G>A	p.Ala286= (p.A286=)	NM_005765.3 M	SNV	VUS	2 +	2
136463	ATP6AP2	c.189C>T	p.Leu63= (p.L63=)	NM_005765.3 M	SNV	LB	2 +	2
2075421	ATP6AP2	c.225C>T	p.Thr75= (p.T75=)	NM_005765.3 M	SNV	LB	2 +	2
199113	ATP6AP2	c.1050T>C	p.Asp350= (p.D350=)	NM_005765.3 M	SNV	LB	4 +	2
128486	ATP6AP2	c.285G>A	p.Ser95= (p.S95=)	NM_005765.3 M	SNV	LB	2 +	2
2151425	ATP6AP2	c.132C>T	p.Asp44= (p.D44=)	NM_005765.3 M	SNV	B	2 +	1
1519106	ATP6AP2	c.47G>A	p.Gly16Glu (p.G16E)	NM_005765.3 M	SNV	VUS	2 +	1
1471519	ATP6AP2	c.448A>T	p.Thr150Ser (p.T150S)	NM_005765.3 M	SNV	VUS	2 +	1
1608741	ATP6AP2	c.678T>C	p.Tyr226= (p.Y226=)	NM_005765.3 M	SNV	LB	2 +	1
759345	ATP6AP2	c.357G>A	p.Glu119= (p.E119=)	NM_005765.3 M	SNV	LB	2 +	1
759346	ATP6AP2	c.516T>C	p.Ser172= (p.S172=)	NM_005765.3 M	SNV	LB	2 +	1
1040448	ATP6AP2	c.455G>A	p.Arg152His (p.R152H)	NM_005765.3 M	SNV	LB	2 +	1
1131079	ATP6AP2	c.398G>A	p.Arg133Lys (p.R133K)	NM_005765.3 M	SNV	LB	2 +	1
852040	ATP6AP2	c.160G>T	p.Val54Leu (p.V54L)	NM_005765.3 M	SNV	VUS	2 +	1

118 Results, 20 per Page

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