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Gene: STAT2 & Disease: IMD44, 2164 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2107909	STAT2	c.131+1G>A	--	NM_005419.4 M	SNV	LP	2 +	3
578415	STAT2	c.1999C>T	p.Arg667Ter (p.R667X)	NM_005419.4 M	SNV	P	2 +	3
2005889	STAT2	c.1630-2A>G	--	NM_005419.4 M	SNV	LP	2 +	3
1453231	STAT2	c.1528C>T	p.Arg510Ter (p.R510X)	NM_005419.4 M	SNV	P	2 +	3
2137378	STAT2	c.1576G>A	p.Gly526Arg (p.G526R)	NM_005419.4 M	SNV	P	2 +	3
1510719	STAT2	c.1577-1G>A	--	NM_005419.4 M	SNV	LP	2 +	3
663294	STAT2	c.1209+1del	--	NM_005419.4 M	Del	P	2 +	3
2107909	STAT2	c.131+1G>A	--	NM_001385110.1	SNV	LP	2 +	3
	STAT2	c.131+1G>A	--	NM_001385115.1	SNV	LP	2 +	3
	STAT2	c.131+1G>A	--	NM_198332.2	SNV	LP	2 +	3
	STAT2	c.131+1G>A	--	NM_001385114.1	SNV	LP	2 +	3
	STAT2	c.131+1G>A	--	NM_001385111.1	SNV	LP	2 +	3
	STAT2	c.131+1G>A	--	NM_001385113.1	SNV	LP	2 +	3
578415	STAT2	c.1966C>T	p.Arg656Ter (p.R656X)	NM_001385110.1	SNV	P	2 +	3
	STAT2	c.1900C>T	p.Arg634Ter (p.R634X)	NM_001385111.1	SNV	P	2 +	3
	STAT2	c.1999C>T	p.Arg667Ter (p.R667X)	NM_001385113.1	SNV	P	2 +	3
	STAT2	c.1978C>T	p.Arg660Ter (p.R660X)	NM_001385114.1	SNV	P	2 +	3
	STAT2	c.1957C>T	p.Arg653Ter (p.R653X)	NM_001385115.1	SNV	P	2 +	3
	STAT2	c.1987C>T	p.Arg663Ter (p.R663X)	NM_198332.2	SNV	P	2 +	3
2005889	STAT2	c.1597-2A>G	--	NM_001385110.1	SNV	LP	2 +	3

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