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Gene: UGT1A9 & Disease: CN1, 81 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12275	UGT1A9	c.856-6800AT[8]	--	NM_021027.3 M	MS	P	5 +	35
212543	UGT1A9	c.1082C>T	p.Pro361Leu (p.P361L)	NM_021027.3 M	SNV	P	6 +	20
12281	UGT1A9	c.1447T>G	p.Tyr483Asp (p.Y483D)	NM_021027.3 M	SNV	P	6 +	17
12272	UGT1A9	c.914G>A	p.Gly305Glu (p.G305E)	NM_021027.3 M	SNV	P	2 +	11
160239	UGT1A9	c.856-6073T>G	--	NM_021027.3 M	SNV	P	4 +	9
724578	UGT1A9	c.955A>G	p.Ile319Val (p.I319V)	NM_021027.3 M	SNV	B	3 +	6
12271	UGT1A9	c.856-6234_856-6232del	--	NM_021027.3 M	MS	P	1 +	6
12266	UGT1A9	c.868_881delinsA	p.Tyr290fs (p.Y290fs)	NM_021027.3 M	Indel	P	1 +	5
12267	UGT1A9	c.1115C>T	p.Ser372Phe (p.S372F)	NM_021027.3 M	SNV	P	1 +	4
12269	UGT1A9	c.1012C>T	p.Arg338Ter (p.R338X)	NM_021027.3 M	SNV	P	2 +	4
437211	UGT1A9	c.856-6122C>T	--	NM_021027.3 M	SNV	P	2 +	4
197672	UGT1A9	c.1343C>T	p.Pro448Leu (p.P448L)	NM_021027.3 M	SNV	LB	5 +	3
437450	UGT1A9	c.997C>T	p.Arg333Trp (p.R333W)	NM_021027.3 M	SNV	P	1 +	3
437208	UGT1A9	c.856-6138_856-6115del	--	NM_021027.3 M	Del	P	1 +	3
1409267	UGT1A9	c.856-6061C>T	--	NM_021027.3 M	SNV	LP	5 +	2
898686	UGT1A9	c.*419T>C	--	NM_021027.3 M	SNV	B	3 +	2
498359	UGT1A9	c.1198C>T	p.Arg400Cys (p.R400C)	NM_021027.3 M	SNV	VUS	5 +	2
12268	UGT1A9	c.982C>T	p.Gln328Ter (p.Q328X)	NM_021027.3 M	SNV	P	1 +	2
12273	UGT1A9	c.856-5907C>A	--	NM_021027.3 M	SNV	P	1 +	2
437209	UGT1A9	c.856-6125_856-6122dup	--	NM_021027.3 M	Dup	P	1 +	2

81 Results, 20 per Page

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