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Gene: SCO1 & Disease: MC4DN4, 26 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6178	SCO1	c.521C>T	p.Pro174Leu (p.P174L)	NM_004589.4 M	SNV	P	1 +	7
1470988	SCO1	c.445C>T	p.Arg149Cys (p.R149C)	NM_004589.4 M	SNV	VUS	1 +	2
6177	SCO1	c.364_364+1del	--	NM_004589.4 M	MS	P	1 +	2
741449	SCO1	c.744C>T	p.Gly248= (p.G248=)	NM_004589.4 M	SNV	LB	1 +	2
215117	SCO1	c.753C>T	p.Asp251= (p.D251=)	NM_004589.4 M	SNV	LB	1 +	2
1349711	SCO1	c.203G>A	p.Ser68Asn (p.S68N)	NM_004589.4 M	SNV	VUS	1 +	2
811095	SCO1	c.881T>A	p.Met294Lys (p.M294K)	NM_004589.4 M	SNV	VUS	1 +	2
889502	SCO1	c.140G>A	p.Arg47Gln (p.R47Q)	NM_004589.4 M	SNV	VUS	3 +	2
1028273	SCO1	c.94C>G	p.Pro32Ala (p.P32A)	NM_004589.4 M	SNV	VUS	2 +	2
2045643	SCO1	c.10C>G	p.Leu4Val (p.L4V)	NM_004589.4 M	SNV	VUS	1 +	2
321791	SCO1	c.868A>G	p.Ile290Val (p.I290V)	NM_004589.4 M	SNV	LB	3 +	2
321797	SCO1	c.259C>T	p.Pro87Ser (p.P87S)	NM_004589.4 M	SNV	VUS	3 +	2
1631502	SCO1	c.656-20C>G	--	NM_004589.4 M	SNV	LB	1 +	2
390411	SCO1	c.702C>T	p.Val234= (p.V234=)	NM_004589.4 M	SNV	LB	1 +	2
139077	SCO1	c.297A>G	p.Ala99= (p.A99=)	NM_004589.4 M	SNV	LB	3 +	2
418798	SCO1	c.261del	p.Ser88fs (p.S88fs)	NM_004589.4 M	Del	P	1 +	2
215125	SCO1	c.430A>G	p.Thr144Ala (p.T144A)	NM_004589.4 M	SNV	VUS	1 +	1
215123	SCO1	c.787A>G	p.Ile263Val (p.I263V)	NM_004589.4 M	SNV	VUS	3 +	1
1687682	SCO1	c.271G>A	p.Gly91Arg (p.G91R)	NM_004589.4 M	SNV	VUS	1 +	1
2441896	SCO1	c.722A>G	p.Tyr241Cys (p.Y241C)	NM_004589.4 M	SNV	VUS	1 +	1

共26个结果, 每页展示20条

Comparison