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Gene: ARL6IP1 & Disease: SPG61, 79 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
620202	ARL6IP1	c.346C>T	p.Arg116Ter (p.R116X)	NM_015161.3 M	SNV	P	1 +	4
474862	ARL6IP1	c.409-2A>G	--	NM_015161.3 M	SNV	LP	1 +	4
620202	ARL6IP1	c.259C>T	p.Arg87Ter (p.R87X)	NM_001313858.1	SNV	P	1 +	4
474862	ARL6IP1	c.322-2A>G	--	NM_001313858.1	SNV	LP	1 +	4
657883	ARL6IP1	c.408+4C>G	--	NM_015161.3 M	SNV	VUS	1 +	2
2089281	ARL6IP1	c.493+5G>A	--	NM_015161.3 M	SNV	VUS	1 +	2
657883	ARL6IP1	c.321+4C>G	--	NM_001313858.1	SNV	VUS	1 +	2
2089281	ARL6IP1	c.406+5G>A	--	NM_001313858.1	SNV	VUS	1 +	2
1580614	ARL6IP1	c.6G>A	p.Ala2= (p.A2=)	NM_015161.3 M	SNV	LB	1 +	1
1918023	ARL6IP1	c.17A>G	p.Asn6Ser (p.N6S)	NM_015161.3 M	SNV	VUS	1 +	1
583366	ARL6IP1	c.26C>G	p.Thr9Ser (p.T9S)	NM_015161.3 M	SNV	VUS	1 +	1
704124	ARL6IP1	c.29A>G	p.Asn10Ser (p.N10S)	NM_015161.3 M	SNV	B	1 +	1
2156733	ARL6IP1	c.36+11G>C	--	NM_015161.3 M	SNV	LB	1 +	1
1572852	ARL6IP1	c.36+13dup	--	NM_015161.3 M	Dup	LB	1 +	1
1922923	ARL6IP1	c.36+19T>A	--	NM_015161.3 M	SNV	LB	1 +	1
2048441	ARL6IP1	c.113G>A	p.Arg38Gln (p.R38Q)	NM_015161.3 M	SNV	VUS	1 +	1
2029068	ARL6IP1	c.37-20T>G	--	NM_015161.3 M	SNV	LB	1 +	1
2160407	ARL6IP1	c.171-9T>A	--	NM_015161.3 M	SNV	LB	1 +	1
1257597	ARL6IP1	c.170+12A>T	--	NM_015161.3 M	SNV	B	1 +	1
772179	ARL6IP1	c.177C>T	p.Ile59= (p.I59=)	NM_015161.3 M	SNV	LB	1 +	1

共79个结果, 每页展示20条

Comparison