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Gene: IBA57 & Disease: SPG74, 252 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1064623	IBA57	c.262dup	p.Ala88fs (p.A88fs)	NM_001010867.4 M	Dup	P	2 +	6
1067695	IBA57	c.341+1G>T	--	NM_001010867.4 M	SNV	LP	2 +	5
948465	IBA57	c.341+1G>A	--	NM_001010867.4 M	SNV	LP	2 +	5
2130852	IBA57	c.342-488_361del	--	NM_001010867.4 M	Del	LP	2 +	5
1968141	IBA57	c.193_203dup	p.Phe69fs (p.F69fs)	NM_001010867.4 M	Dup	P	2 +	4
1396845	IBA57	c.335T>A	p.Leu112Ter (p.L112X)	NM_001010867.4 M	SNV	P	2 +	4
2070682	IBA57	c.316A>T	p.Thr106Ser (p.T106S)	NM_001010867.4 M	SNV	VUS	2 +	4
1202371	IBA57	c.307C>T	p.Gln103Ter (p.Q103X)	NM_001010867.4 M	SNV	P	2 +	4
2187516	IBA57	c.143G>A	p.Trp48Ter (p.W48X)	NM_001010867.4 M	SNV	P	2 +	4
2062660	IBA57	c.454G>T	p.Glu152Ter (p.E152X)	NM_001010867.4 M	SNV	P	2 +	4
545650	IBA57	c.316A>G	p.Thr106Ala (p.T106A)	NM_001010867.4 M	SNV	P	2 +	4
660906	IBA57	c.384dup	p.Asp129Ter (p.D129X)	NM_001010867.4 M	Dup	P	2 +	4
1997279	IBA57	c.74_75del	p.Ala25fs (p.A25fs)	NM_001010867.4 M	MS	P	2 +	4
2062660	IBA57	c.-126G>T	--	NM_001310327.2	SNV	P	2 +	4
660906	IBA57	c.-196dup	--	NM_001310327.2	Dup	P	2 +	4
1064622	IBA57	c.679+3A>G	--	NM_001010867.4 M	SNV	LP	2 +	3
1064622	IBA57	c.100+3A>G	--	NM_001310327.2	SNV	LP	2 +	3
1073739	IBA57	c.265_286dup	p.Tyr96fs (p.Y96fs)	NM_001010867.4 M	Dup	P	2 +	2
2024128	IBA57	c.341+4A>C	--	NM_001010867.4 M	SNV	VUS	2 +	2
1496294	IBA57	c.802C>T	p.Arg268Cys (p.R268C)	NM_001010867.4 M	SNV	VUS	2 +	2

252 Results, 20 per Page

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