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Gene: PSMB8 & Disease: Nakajo Syndrome, 329 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
659832	PSMB8	c.224C>T	p.Thr75Met (p.T75M)	NM_148919.4 M	SNV	P	2 +	5
659832	PSMB8	c.212C>T	p.Thr71Met (p.T71M)	NM_004159.5	SNV	P	2 +	5
2109309	PSMB8	c.274G>C	p.Ala92Pro (p.A92P)	NM_148919.4 M	SNV	VUS	2 +	3
2109309	PSMB8	c.262G>C	p.Ala88Pro (p.A88P)	NM_004159.5	SNV	VUS	2 +	3
2027149	PSMB8	c.69_147+42del	--	NM_148919.4 M	Del	LP	2 +	2
29860	PSMB8	c.602G>T	p.Gly201Val (p.G201V)	NM_148919.4 M	SNV	P	2 +	2
29862	PSMB8	c.405C>A	p.Cys135Ter (p.C135X)	NM_148919.4 M	SNV	P	2 +	2
2027149	PSMB8	c.135+351_135+471del	--	NM_004159.5	Del	LP	2 +	2
29860	PSMB8	c.590G>T	p.Gly197Val (p.G197V)	NM_004159.5	SNV	P	2 +	2
29862	PSMB8	c.393C>A	p.Cys131Ter (p.C131X)	NM_004159.5	SNV	P	2 +	2
356359	PSMB8	c.*8G>A	--	NM_148919.4 M	SNV	LB	3 +	1
356368	PSMB8	c.145C>A	p.Gln49Lys (p.Q49K)	NM_148919.4 M	SNV	B	3 +	1
356365	PSMB8	c.407+6C>T	--	NM_148919.4 M	SNV	B	2 +	1
548954	PSMB8	c.313A>C	p.Lys105Gln (p.K105Q)	NM_148919.4 M	SNV	P	2 +	1
1664776	PSMB8	c.147+15G>A	--	NM_148919.4 M	SNV	LB	2 +	1
952176	PSMB8	c.421C>T	p.Arg141Ter (p.R141X)	NM_148919.4 M	SNV	P	2 +	1
1377170	PSMB8	c.430G>A	p.Glu144Lys (p.E144K)	NM_148919.4 M	SNV	VUS	2 +	1
1385379	PSMB8	c.481C>T	p.Gln161Ter (p.Q161X)	NM_148919.4 M	SNV	P	3 +	1
933294	PSMB8	c.608_611dup	p.Asn204fs (p.N204fs)	NM_148919.4 M	Dup	P	2 +	1
1691062	PSMB8	c.31dup	p.Arg11fs (p.R11fs)	NM_148919.4 M	Dup	P	2 +	1

329 Results, 20 per Page

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