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Gene: ATP8B1 & Disease: PFIC1, 532 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7262	ATP8B1	c.923G>T	p.Gly308Val (p.G308V)	NM_001374385.1 M	SNV	P	1 +	13
	ATP8B1	c.773G>T	p.Gly258Val (p.G258V)	NM_001374386.1	SNV	P	1 +	13
	ATP8B1	c.923G>T	p.Gly308Val (p.G308V)	NM_005603.6	SNV	P	1 +	13
7267	ATP8B1	c.1982T>C	p.Ile661Thr (p.I661T)	NM_001374385.1 M	SNV	P	3 +	11
	ATP8B1	c.1832T>C	p.Ile611Thr (p.I611T)	NM_001374386.1	SNV	P	3 +	11
	ATP8B1	c.1982T>C	p.Ile661Thr (p.I661T)	NM_005603.6	SNV	P	3 +	11
198532	ATP8B1	c.607A>G	p.Lys203Glu (p.K203E)	NM_001374385.1 M	SNV	VUS	3 +	7
	ATP8B1	c.457A>G	p.Lys153Glu (p.K153E)	NM_001374386.1	SNV	VUS	3 +	7
	ATP8B1	c.607A>G	p.Lys203Glu (p.K203E)	NM_005603.6	SNV	VUS	3 +	7
2439403	ATP8B1	c.1798C>T	p.Arg600Trp (p.R600W)	NM_001374385.1 M	SNV	P	1 +	6
7269	ATP8B1	c.1660G>A	p.Asp554Asn (p.D554N)	NM_001374385.1 M	SNV	P	1 +	6
126382	ATP8B1	c.1993G>T	p.Glu665Ter (p.E665X)	NM_001374385.1 M	SNV	P	2 +	6
2439403	ATP8B1	c.1648C>T	p.Arg550Trp (p.R550W)	NM_001374386.1	SNV	P	1 +	6
2439403	ATP8B1	c.1798C>T	p.Arg600Trp (p.R600W)	NM_005603.6	SNV	P	1 +	6
7269	ATP8B1	c.1510G>A	p.Asp504Asn (p.D504N)	NM_001374386.1	SNV	P	1 +	6
7269	ATP8B1	c.1660G>A	p.Asp554Asn (p.D554N)	NM_005603.6	SNV	P	1 +	6
126382	ATP8B1	c.1843G>T	p.Glu615Ter (p.E615X)	NM_001374386.1	SNV	P	2 +	6
126382	ATP8B1	c.1993G>T	p.Glu665Ter (p.E665X)	NM_005603.6	SNV	P	2 +	6
381740	ATP8B1	c.1286A>C	p.Glu429Ala (p.E429A)	NM_001374385.1 M	SNV	LB	1 +	5
7263	ATP8B1	c.2674G>A	p.Gly892Arg (p.G892R)	NM_001374385.1 M	SNV	P	1 +	5

532 Results, 20 per Page

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