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Gene: CIITA & Disease: RA, 216 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
598994	CIITA	c.3344G>A	p.Ser1115Asn (p.S1115N)	NM_000246.4 M	SNV	VUS	4 +	2
571174	CIITA	c.3217T>A	p.Ser1073Thr (p.S1073T)	NM_000246.4 M	SNV	VUS	2 +	2
971840	CIITA	c.3197G>A	p.Arg1066His (p.R1066H)	NM_000246.4 M	SNV	LB	2 +	2
989911	CIITA	c.2831C>T	p.Ser944Leu (p.S944L)	NM_000246.4 M	SNV	VUS	2 +	2
827997	CIITA	c.2817-8C>G	--	NM_000246.4 M	SNV	LB	2 +	2
317716	CIITA	c.2651G>A	p.Arg884His (p.R884H)	NM_000246.4 M	SNV	LB	2 +	2
989907	CIITA	c.2564C>T	p.Ala855Val (p.A855V)	NM_000246.4 M	SNV	VUS	2 +	2
1413877	CIITA	c.2515C>G	p.Arg839Gly (p.R839G)	NM_000246.4 M	SNV	VUS	2 +	2
934511	CIITA	c.2113G>C	p.Glu705Gln (p.E705Q)	NM_000246.4 M	SNV	VUS	2 +	2
958250	CIITA	c.2113G>A	p.Glu705Lys (p.E705K)	NM_000246.4 M	SNV	VUS	2 +	2
317704	CIITA	c.2096C>T	p.Pro699Leu (p.P699L)	NM_000246.4 M	SNV	VUS	2 +	2
972518	CIITA	c.1939C>T	p.Arg647Cys (p.R647C)	NM_000246.4 M	SNV	VUS	2 +	2
575798	CIITA	c.1556C>T	p.Pro519Leu (p.P519L)	NM_000246.4 M	SNV	VUS	2 +	2
991982	CIITA	c.965C>T	p.Pro322Leu (p.P322L)	NM_000246.4 M	SNV	LB	2 +	2
625921	CIITA	c.931A>G	p.Met311Val (p.M311V)	NM_000246.4 M	SNV	LB	2 +	2
1410833	CIITA	c.631C>T	p.Pro211Ser (p.P211S)	NM_000246.4 M	SNV	VUS	2 +	2
569422	CIITA	c.413T>C	p.Val138Ala (p.V138A)	NM_000246.4 M	SNV	VUS	2 +	2
571291	CIITA	c.307C>A	p.Gln103Lys (p.Q103K)	NM_000246.4 M	SNV	VUS	2 +	2
528783	CIITA	c.286G>A	p.Ala96Thr (p.A96T)	NM_000246.4 M	SNV	VUS	2 +	2
598994	CIITA	c.3347G>A	p.Ser1116Asn (p.S1116N)	NM_001286402.1	SNV	VUS	4 +	2

216 Results, 20 per Page

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