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Gene: UBA1 & Disease: SMAX2, 796 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
836983	UBA1	c.121A>G	p.Met41Val (p.M41V)	NM_003334.4 M	SNV	P	2 +	9
836983	UBA1	c.121A>G	p.Met41Val (p.M41V)	NM_153280.3	SNV	P	2 +	9
965290	UBA1	c.122T>C	p.Met41Thr (p.M41T)	NM_003334.4 M	SNV	P	2 +	4
9780	UBA1	c.1617G>T	p.Met539Ile (p.M539I)	NM_003334.4 M	SNV	P	1 +	4
965290	UBA1	c.122T>C	p.Met41Thr (p.M41T)	NM_153280.3	SNV	P	2 +	4
9780	UBA1	c.1617G>T	p.Met539Ile (p.M539I)	NM_153280.3	SNV	P	1 +	4
981654	UBA1	c.121A>C	p.Met41Leu (p.M41L)	NM_003334.4 M	SNV	P	2 +	3
368331	UBA1	c.811+9C>G	--	NM_003334.4 M	SNV	B	1 +	3
1486648	UBA1	c.1617G>A	p.Met539Ile (p.M539I)	NM_003334.4 M	SNV	VUS	1 +	3
981654	UBA1	c.121A>C	p.Met41Leu (p.M41L)	NM_153280.3	SNV	P	2 +	3
368331	UBA1	c.811+9C>G	--	NM_153280.3	SNV	B	1 +	3
1486648	UBA1	c.1617G>A	p.Met539Ile (p.M539I)	NM_153280.3	SNV	VUS	1 +	3
1364023	UBA1	c.587+3G>A	--	NM_003334.4 M	SNV	VUS	1 +	2
2163085	UBA1	c.1575G>A	p.Thr525= (p.T525=)	NM_003334.4 M	SNV	VUS	1 +	2
2023872	UBA1	c.678+6G>A	--	NM_003334.4 M	SNV	VUS	1 +	2
1352563	UBA1	c.118-11_118-3del	--	NM_003334.4 M	Del	VUS	1 +	2
533614	UBA1	c.2464+6_2464+9del	--	NM_003334.4 M	Del	VUS	1 +	2
1490238	UBA1	c.521G>A	p.Arg174Gln (p.R174Q)	NM_003334.4 M	SNV	VUS	2 +	2
9781	UBA1	c.1639A>G	p.Ser547Gly (p.S547G)	NM_003334.4 M	SNV	P	1 +	2
9782	UBA1	c.1731C>T	p.Asn577= (p.N577=)	NM_003334.4 M	SNV	P	1 +	2

796 Results, 20 per Page

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